Epstein's Inborn Errors of Development

This third edition of Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology.

Contents

    I: GENERAL CONCEPTS
    1. Human Malformations and Their Genetic Basis
    CHARLES J. EPSTEIN
    2. Principles of Differentiation and Morphogenesis
    scott f. gilbert and ritva rice
    3. Model Organisms in the Study of Development and Disease
    ethan bier and william mcginnis
    4. Human Genomics and Human Development
    Bob Nussbaum
    II: Patterns of Development
    5. Development of Left-Right Asymmetry
    Hiroshi Hamada
    6. Neural Crest Formation and Craniofacial Development
    Kurt A. Engleka and Jonathan A. Epstein
    7. Development of the Nervous System
    JOHN L. R. RUBENSTEIN AND LUIS PUELLES
    8. Development of the Eye
    David C. Beebe
    9. Development of the Ear
    Donna M. Fekete
    10. Molecular Regulation of Cardiogenesis
    Deepak Srivastava and Joseph T. C. Shieh
    11. Update on the Development of the Vascular System and Its Sporadic Disorders
    M. Michael Cohen Jr
    12. MUSCLE AND SOMITE DEVELOPMENT
    Douglas Anderson and Alan Rawls
    13. The Development of Bone and Cartilage
    shunichi murakami, haruhiko akiyama, And benoit de crombrugghe
    14. LIMB DEVELOPMENT
    MalteSpielmann and Sigmar Stricker
    15. The Sex Determination Pathway
    PETER J. eLLIS and robert p. erickson
    16. Development of the Kidney
    Kevin T. Bush, Mita M. Shah, Dylan L. Steer, Derina E. Sweeney, and Sanjay K. Nigam
    17. DEVELOPMENT OF THE ENDODERMAL DERIVATIVES IN LUNG, LIVER, PANCREAS, AND GUT
    Ben Z. Stanger,
    18. Development of Epidermal Appendages: Teeth and Hair
    ATSUSHI OHAZAMA AND PAUL T. SHARPE
    III: Defined Core Developmental Pathways Linked to Cilia
    Part A: Ciliary Functions: Genesis, Transport, and Reabsorbtion
    19. Primary Ciliary Dyskinesia (Kartagener's Syndrome)
    MICHAL WITT AND ZUZANNA BUKOWY-BIERY??O
    20. The Molecular Basis of Joubert Syndrome and Related Disorders
    Jeong Ho Lee and Joseph G. Gleeson
    21. The Bardet-Biedl Syndrome
    Val C. Sheffield, Qihong Zhang, Elise Heon, Arlene V. Drack, Edwin M. Stone and Rivka Carmi
    22. The Molecular basis of Oral-facial-digital type I (OFDI) SYNdrome
    Brunella Franco 23. Meckel syndrome
    Amanda Leightner and Peter C. Harris
    24. From Hydrolethalus to Acrocallosal syndromes: A spectrum of disorders linked to KIF7 gene.
    Ferechté Encha-RAZAVI AND Tania ATTIE-BITACH
    25. Sensenbrenner syndrome (Cranioectodermal dysplasia, CED)-a genetically heterogeneous ciliopathy
    Joanna Walczak-Sztulpa AND, Anna Latos-Bielenska
    PART B: THE SONIC HEDGEHOG SIGNALING PATHWAY
    27. The Hedgehog Signaling Network
    M. MICHAEL COHEN
    28. SMITH-LEMLI-OPITZ SYNDROME
    WEN-HANN TAN AND MIRA B. IRONS
    29. SHH AND HOLOPROSENCEPHALY
    KHOSROW S. HOUSCHYAR, ANDREW A. SMITH, AND JILL A. HELMS
    30. IHH AND ACROCAPITOFEMORAL DYSPLASIA AND BRACHYDACTYLY A1
    JAN HELLEMANS AND GEERT R. MORTIER
    31. PTCH AND THE BASAL CELL NEVUS (GORLIN) SYNDROME
    ERVIN EPSTEIN JR
    32. GLI3 AND THE PALLISTER-HALL AND GREIG CEPHALOPOLYSYNDACTYLY SYNDROMES
    LESLIE G. BIESECKER
    33. SALL1 AND THE TOWNES-BROCKS SYNDROME
    JÜRGEN KOHLHASE
    34. MYCN AND FEINGOLD SYNDROME
    HANS VAN BOKHOVEN AND HAN G. BRUNNER
    35. PREAXIAL POLYDACTYLY TYPE 2 AND ASSOCIATED LIMB DEFECTS
    ROBERT HILL AND LAURA LETTICE
    PART C: THE WNT SIGNALING PATHWAY
    36. THE WNT SIGNALING PATHWAY
    BEN CHEYETTE, KIMBERLY MULLIGA
    37. AXIN2, TOOTH AGENESIS, AND COLORECTAL CANCER
    PEKKA NIEMINEN, LAURA LAMMI, AND HEIKKI J. JÄRVINEN
    38. WNT3 AND TETRA-AMELIA
    STEPHAN NIEMANN
    39. ROR2 AND BRACHYDACTYLY TYPE B AND RECESSIVE ROBINOW SYNDROME
    ANDREW O. M. WILKIE
    40. CENANI-LENZ SYNDROME
    BERND WOLLNIK
    41. GOLTZ SYNDROME (FOCAL DERMAL HYPOPLASIA)
    IGNATIA B. VAN DEN VEYVER AND V. REID SUTTON
    42. WNT10A AND ODONTO-ONYCHO-DERMAL DYSPLASIA
    HALA MÉGARBANÉ AND ANDRÉ MÉGARBANÉ
    43. AL-AWADI-RAAS-ROTHSCHILD SYNDROME/FUHRMANN SYNDROME
    GEOFF WOODS
    44. AXIN AND CAUDAL DUPLICATION ANOMALY
    CHRISTINE R. C. ZHANG AND SUYINN CHONG
    PART D: PLANAR CELL POLARITY (PCP) PATHWAY
    45. Role of Planar Cell Polarity Genes VANGL1 and VANGL2 in Neural Tube Formation and Neural Tube Defects
    Elena Torban, Alexandra Iliescu, and Philippe Gros
    IV: Other Defined Core Developmental Pathways
    Part A: The Transforming Growth Factor-B Signaling Pathway
    46. An Introduction to TGF-? Family Signaling
    Jacqueline Nguyen and Tamara Alliston
    47. NOG and Proximal Symphalangism (SYM1), Multiple Synostosis (SYN1), Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis
    Stefan Mundlos
    48. NODAL Signaling and Heterotaxy
    Stephanie M. Ware AND John W. Belmont
    49. ENG, ACVRL1, and SMAD4 and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
    SUDHA SRINIVASAN, JONATHAN N. BERG, AND DOUGLAS A. MARCHUK
    50. RUNX2 and Cleidocranial Dysplasia
    LINDSAY BURRAGE, YANGJIN BAE, BRENDAN LEE, AND DOBRAWA NAPIERALA
    51. AMH/MIS and Its Receptors: The Persistent Müllerian Duct Syndrome
    Jean-Yves Picard
    52. LE3 and Osteopoikilosis, the Buschke-Ollendorff Syndrome and Melorheostosis
    Geert R. Mortier
    53. TGFBR 1/2 and Loeys-Dietz Syndrome
    Bart L. Loeys and Harry C. Dietz
    54. ZEB2 and Mowat-Wilson Syndrome
    Meredith Wilson, IRINA GIURGEA, AND David Mowa
    55. LTBP4 and Urban-Rifkin-Davis Syndrome
    Zsolt Urban
    56. ACVR1 and Fibrodysplasia Ossificans Progressiva
    Frederick S. Kaplan, O. W. Towler, and Eileen M. Shore
    57. The Role of the Latent TGF-? Binding Protein 3, LTBP3, in Oligodontia and Bone Density Abnormality
    Muhammad Ayub, Abdul Noor, and John B. Vincent
    Part B: The Tumor Necrosis Factor Signaling Pathway
    58. Signaling by TNF and Related Ligands
    Pascal Schneider
    59. The Ectodysplasin Signaling Pathway in Hypohidrotic Ectodermal Dysplasias
    Jonathan Zonana and Kenneth Huttner
    Part C: The Fibroblast Growth Factor Signaling Pathway
    60. Molecular and Cellular Biology of FGF Signaling
    DAVID GIVOL AND VERARAGAVAN P. ESWARAKUMAR
    61. FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndrome
    Andrew O. M. Wilkie
    62. FGF10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome
    Jeff Milunsky
    63. TWIST1 and the Saethre-Chotzen Syndrome
    Ethylin Wang Jabs
    64. KAL1, FGFR1, FGF8, PROKR2, PROK2 and Kallmann syndrome
    Jean-Pierre Hardelin and Catherine Dode
    65. TIE2 (TEK) and Venous Malformation
    NISHA LIMAYE, MELANIE UEBELHOER, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula
    66. FLT4 (VEGFR3) and Milroy Disease
    ROBERT E. FERRELL, DAVID N. FINEGOLD, AND CATHERINE J. BATY
    67. Focal Facial Dermal Dysplasias
    Anne M. Slavotinek, Beom Hee Lee, and Robert J Desnick,
    Part D: The Glia Cell-derived Neurotrophic Factor Signaling
    68. Signaling Pathways of Glial cell-derived Neurotrophic Factor
    Louis Reichardt
    69. RET mutation and function in HSCR, MEN2 and other cancers
    Sumantra Chatterjee, Zachary E. Stine, Andrew S. McCallion, and Aravinda Chakravarti1
    Part E: Introduction to Endothelin-B Receptor and SOX10 Pathways
    70. Introduction to Endothelin-B Receptor and SOX10 Pathways
    MONALEE SAHA AND CHERYL E. GARIEPY
    71. EDNRB, EDN3, and SOX10 and the Shah-Waardenburg Syndrome (WS4)
    Joke B.G.M. Verheij and, Robert M. W. Hofstra
    Part F: The Notch Signaling Pathway
    72. Introduction to Notch Signaling
    ALISON MIYAMOTO AND GERRY WEINMASTER
    73. JAG1 and NOTCH2 and the Alagille Syndrome
    Nancy B. Spinner, Laura D. Leonard Alexandra M. Falsey, and Ian D. Krantz
    74. DLL3, MESP2, LFNG, HES7, TBX6 and Spondylocostal Dysostosis
    Peter D. Turnpenny, Kenro Kusumi, and Sally Dunwoodie
    Part G: The P13K-LKB1 Pathway
    75. The PI3K-LKB1 Pathway
    REUBEN J. SHAW AND LEWIS C. CANTLEY
    76. PTEN and Cowden and Bannayan-Riley-Ruvalcaba syndromes
    Pauline Funchain and Charis Eng
    77. STK11 (LKB1) and Peutz-Jeghers Syndrome
    Stylianos E. Antonarakis
    78. TSC1 and TSC2 and Tuberous Sclerosis
    David J. Kwiatkowski
    Part H: The RAS/ERK/MAPK Pathway
    79. The RAS Pathway
    JEFFREY SWENSEN AND DAVID VISKOCHIL
    80. Neurofibromatosis Type 1
    David H. Gutmann and Heather Riordan
    81. Clinical Features of Noonan Syndrome
    Marco Tartaglia and Bruce D. Gelb
    82. HRAS and Costello Syndrome
    Yoko Aoki, Yoichi Matsubara
    83. The Ras/MAPK Pathway and the Cardio-facio-cutaneous Syndrome
    Kate Rauen
    84. RASA1 and Capillary Malformation- Arteriovenous Malformation
    Nicole Revencu, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula
    85. SPRED1 and Legius syndrome
    Hilde Brems, Ludwine Messiaen,and Eric Legius
    Part I: Eph-Eph Signaling
    86. Introduction to Eph/ephrin signaling in vertebrate development
    Audrey K. O'Neill and Jeffrey O. Bush
    87. Craniofrontonasal syndrome and EFNB1 mutations
    Peter Wieacker and Judit Horvath
    V: Transcription Factors and Chromatin ReguLAtors
    Part A: The Homeobox Gene Family
    88. The Role of Hox and Dlx Gene Clusters in Evolution and Development
    Frank Ruddle
    89. HOXA1 Deficiency Syndrome
    MAX A. TISCHFIELD, ROBERT P ERICKSON, AND ELIZABETH C. ENGLE
    90. HoxA11 and Amegakaryocytic Thrombocytopenia with Radioulnar Synostosis
    amy e. geddis
    91. HOXA13 Hand-foot-genital syndrome (MIM#140000) Guttmacher syndrome (MIM#176305
    Jeffrey W. Innis
    92. HOXD10 mutations associated with congenital vertical talus and pes cavus claw toe limb abnormalities
    Antony E. Shrimpton and E. Mark Levinsohn
    93. HOXD13 and Synpolydactyly
    frances r. goodman and peter j. scambler
    94. EMX2 and HESX1 and Type I Schizencephaly and Septo-Optic Dysplasia
    DANIEL KELBERMAN AND MEHUL T. DATTANI
    95. PDX1 and Pancreatic Agenesis and Type 2 Diabetes
    melissa k. thomas and joel f. habener
    96. MSX1 and hypodontia, orofacial clefting and the Witkop syndrome
    MARIE-JOSÉ H. VAN DEN BOOGAARD AND HANS-KRISTIAN PLOOS VAN AMSTEL
    97. MSX2 in Craniosynostosis and Defects of Skull Ossification
    Robert Maxson
    98. SHOX and Dyschondrosteosis and Turner Syndrome
    Jay W. Ellison
    99. HLXB9 (MNX1) and Sacral Agenesis and the Currarino Syndrome
    stephen scherer, guiseppe martucciello, elena belloni, and michele torre
    100. Branchio-Oto-Renal (BOR) Syndrome
    Fowzan Alkuraya and Richard L. Maas
    101. PITX2 and PITX3: Axenfeld-Rieger Syndrome, Anterior Segment Dysgenesis, Posterior Polar Congenital Cataract (CPP4), and Microphthalmia with Neurologic Impairment
    Linda Reis and Elena V. Semina
    102. NKX2-5 and Congenital Heart Disease
    avihu z. gazit, susan n. foerster, and patrick y. jay
    103. LMX1B and the Nail Patella Syndrome
    Philippe M. Campeau, Nadejda A. Bespalova, and Brendan H. Lee
    104. ALX Homeobox Gene Family and Frontonasal Dysplasias
    ARDA CET?NKAYA AND, NURTEN A. AKARSU
    105. ZEB2 and Mowat-Wilson Syndrome
    Anne M. Slavotinek
    106. PRRX1
    Joy Samanich and Elaine Pereira,
    107. Developmental abnormalities due to mutations in the Aristaless-related homeobox gene
    Cheryl Shoubridge, Michael Field, Richard J. Leventer, and Jozef Gecz
    108. PITX1 associated congenital lower limb malformations
    Christina A Gurnett and Matthew B Dobbs
    Part B: The Paired-Box (PAX) Gene Family
    109. The Paired-Box (PAX) Gene Family; Introduction to Paired-Box Genes
    Cherie Stayner, Caiyun G. Li, Petros P. Petrou, Peter Gruss, and Michael R. Eccles
    110. PAX2 and the Renal-Coloboma Syndrome
    MICHAEL R. ECCLES, MATTHEW BOWER, LISA A. SCHIMMENTI
    111. PAX3 and Waardenburg Syndrome Type 1
    KIRBY A. ZIEGLER, GARETH N. CORRY, and D. ALAN UNDERHILL
    112. PAX6 and Aniridia and Related Phenotypes
    veronica van heyningen and kathleen williamson
    113. PAX9 and Hypodontia
    pragna i. patel and donald t. brown
    Part C: The Forkhead Gene Family
    114. Introduction to Forkhead Genes
    Naoyuki Miura
    115. FOXC1 and FOXL2 and the Axenfeld-Rieger Syndrome and the Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome
    fred b. berry and michael a. walter
    116. FOXC2, FOXF1, and the 16q24.1 region microdeletions: lymphatic, vascular, cardiac, and other phenotypes
    ROBERT P. ERICKSON
    117. FOXE1: Bamforth-Lazarus syndrome, thyroid dysgenesis and thyroid cancerpredisposition
    Masaru Katoh, MasukoKatoh, Mireille Castanet, AuroreCarré, and Michel Polak
    118. AAGGF1 and Vascular Disease Klippel-Trenaunay Syndrome
    AGGF1 and Vascular Disease Klippel-Trenaunay Syndrome
    Part D: The T-Box Gene Family
    119. Introduction to the T-Box Genes, Their Evolution and Roles in Development
    VIRGINIA E. PAPAIOANNOU AND SARAH N. GOLDIN
    120. The 22q11.2 deletion syndrome and TBX1
    Bernice E. Morrow, Donna M. McDonald-McGinn, and Beverly S. Emanuel
    121. TBX3 and TBX5 and the Ulnar-Mammaryand Holt-Oram Syndromes
    MICHAEL J. BAMSHAD AND LYNN B. JORDE
    122. TBX22 and X-linked Cleft Palate and Ankyloglossia
    Erwin Pauws and Philip Stanier
    Part E: The SOX Gene Family
    123. Sox genes in development and disease
    Peter Koopman
    124. Functions of Sox Genes in Development and Disease
    David R. FitzPatrick
    125. SOX3 and Infundibular Hypoplasia
    Kyriaki S Alatzoglou, Daniel Kelberman, Mehul T Dattani
    126. SOX9 and Campomelic Dysplasia and Sex Reversal
    S. Mansour
    127. SOX18 and the Hypotrichosis-Lymphedema-Telangiectasia Syndrome
    PASCAL BROUILLARD, KOEN DEVRIENDT, AND MIIKKA VIKKULA
    Part F: Transcription Factors
    128. MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes
    Lina Naga and thomas j. hornyak
    129. POU3F4 and Mixed Deafness with Temporal Bone Defect (DFNX2)
    Hannie Kremer, Cor W.R.J. Cremers, Erwin van Wijk, and Frans P. M. Cremers
    130. Char and Branchiooculofacial Syndromes: The AP-2
    Transcription Factor Defects MIM# 169100 and 113620
    Matthew Bock and Bruce D. Gelb
    131. GATA3 AND HYPOPARATHRYOIDISM, DEAFNESS AND RENAL DISEASE
    R. Thakker
    132. FOG-2 (now ZFPM2) and GATA-4, Congenital Heart Disease and Diaphragmatic Hernia
    A. Slavotinek
    133. PTF1A: Pancreatic and Cerebellar Agenesis
    Jayne A. L. Houghton and Andrew T. Hattersley,
    134. RAI1, Smith-Magenis and Potocki-Lupski syndromes
    Melanie Lacaria, Weimin Bi, and James R. Lupski
    135. SALL4 and the Duane Radial-Ray/ Okihiro and Acro-renal-ocular syndromes
    Jürgen Kohlhase, Rosa Barrio, AND James D. Sutherland
    136. HNF1B-MODY: A Disorder of Development with Diabetes and Congenital Malformations in Pancreas and Urogenital Tract Due to Mutations in HNF1B
    Oddmund Søvik, Jørn V. Sagen, INGFRID S. HALDORSEN, erlinG tjora, and PÅL R. Njølstad
    137. ZIC1, ZIC4 and FOXC1 in Dandy-Walker Malformation
    Kathleen J. Millen,
    138. TRPS1 and the Tricho-rhino-phalangeal Syndromes
    HE R MA N N-J O S E F LÜ D E C KE A N D B E R NH A R D HO R S T HE MK E
    139. MED12 and Opitz-Kaveggia Syndrome
    M.J. Lyons
    140. Börjeson-Forssman-Lehmann syndrome and PHF6
    Mark A. Corbett, Matthew Hunter and Jozef Gecz
    Part G: Regulation of Chromatin Structure and Gene Expression
    141. Mechanisms of Regulated Gene Transcription
    Robert B. Weiss, Kristen Jepsen, Valentina Perissi, Victoria Lunyak, Michael G. Rosenfeld, and Christopher K. Glass
    142. CBP (CREBBP), the Rubinstein-Taybi Syndrome and the 16p13.3 duplication syndrome
    fred petrij AND dorien j. m. peters
    143. ATRX, X-Linked a-Thalassemia Mental Retardation
    RICHARD J. GIBBONS, TAKAHITO WADA, AND CHRISTOPHER A. FISHER
    144. IGF2, H19,CDKNIC, and KCNQ1OT1 and the Beckwith-Wiedemann Syndrome
    Marcel Mannens, I Karen Temple and Frederic Brioude
    145. Prader-Will Syndrome
    McCandless and Suzanne Cassidy
    146. Genetic and Clinical Heterogeneity in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
    Silvère van der Maarel and Corry Weemaes
    147. RSK2 and the Coffin-Lowry Syndrom
    ANNE SCHNEIDER, JEAN-PIERRE DELAUNOY, AND ANDRÉ HANAUER
    148. The BCL6 corepressor (BCOR) and oculofaciocardiodental syndrome
    Emma Hilton, Graeme Black, AND Vivian Bardwell
    149. CHD7 and CHARGE syndrome
    Donna M. Martin and Conny M. A. van Ravenswaaij-Arts
    150. CARBOXY-TERMINAL DOMAIN PHOSPHATASE 1: CONGENITAL CATARACTS FACIAL DYSMORPHISM NEUROPATHY SYNDROME
    Luba Kalaydjieva, Teodora Chamova, and Rebecca Gooding
    151. ESCO2 and Roberts Syndrome
    HUGO VEGA, MIRIAM GORDILLO, AND ETHYLIN WANG JABS
    152. MS. 173 / Pathways-Cohesinopathies
    Yaning Wu, Matthew A. Deardorff, and Ian D. Krantz
    153. NSD1 and Sotos Syndrome
    Remco Visser and Naomichi Matsumoto
    154. KABUKI SYNDROME
    Margaret P. Adam, and Louanne Hudgins,
    155. Margaret P. Adam, and Louanne Hudgins, Kenichi Yoshida, Bregje W. M. van Bon and Seishi Ogawa
    156. HDAC4 and 2q37 Deletion Syndrome
    Trang Le and Sarah Elsea
    157. Warsaw Breakage Syndrome
    Johan P. de Winter
    VI: Cellular Processes and Dynamics
    Part A: RNA Localization and Control of Activity
    158. Posttranscriptional Control: Nuclear RNA Processing
    MAURICE S. SWANSON AND JOHN P. ARIS
    159. FMR1 and the Fragile X Syndrome
    Kathryn B. Garber, Jeannie Visootsak, and Stephen T. Warren
    160. TCOF1 (Treacle) and the Treacher Collins Syndrome
    JILL DIXON, PAUL A. TRAINOR, AND MICHAEL J. DIXON
    161. RMRP and Cartilage-Hair Hypoplasia
    pia hermanns, bernhard zabel, and brendan lee
    Part B: Posttranslational Control and Ubiquitination
    162. An Introduction to Posttranslational Control by Ubiquitin-Dependent Proteolysis
    PETER K. JACKSON
    163. UBE3A and the Angelman Syndrome
    Charles A. Williams
    164. VHL and von hippel-lindau disease
    Eamonn R. Maher
    165. PQBP1 and Renpenning Syndrome, Related XLID Syndromes and Nonsyndromic XLID
    Charles E. Schwartz
    166. TBCE and the Hypoparathyroidism-Retardation-Dysmorphism (HRD) Syndrome
    GEORGE A. DIAZ, RUTI PARVARI, ELI HERSHKOVITZ, AND MONICA SENTMANAT
    167. UBR1 and the N-end Rule Pathway and the Johanson-Blizzard Syndrome
    martin zenker
    168.
    169. MID1 and the X-linked Opitz G/BBB Syndrome
    Germana Meroni
    170. Peters' Plus syndrome
    Saskia AJ Lesnik Oberstein, Martine J van Belzen, Raoul CM Hennekam
    171. X-linked Malformation and Infantile Lethality Syndrome (provisionally named Ogden Syndrome)
    Gholson J. Lyon, Lynne M. Bird, and Alan Rope
    Part C: Cell Cycle, Proliferation, and Apoptosis
    172. An Introduction to the Mechanisms of Cell Cycle Regulation and Apoptosis
    katrien vermeulen, dirk r. van bockstaele, viggo f. i. van tendeloo, and zwi n. berneman
    173. HUTCHINSON-GILFORD PROGERIA SYNDROME
    FRANK G. ROTHMAN AND LESLIE B. GORDON
    174. Fanconi Anemia
    Henri van de Vrugt and Markus Grompe
    175. RECQL4-related recessive conditions
    L Van Maldergem, J Piard, L Larizza and L. L. Wang
    176. TP63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC), Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Hay-Wells), Acro-Dermato-Ungual-Lacrimal-Digit (ADULT), and Rapp-Hodgkin Syndromes and Ectrodactyly (Split Hand/Foot Malformation)
    michael j. bamshad
    177. Seckel syndrome
    Mark O'Driscoll
    178. Miller syndrome
    Dagmar Wieczorek David FitzPatrick
    179. Meier-Gorlin Syndrome
    Mark E. Samuels, Cheri L. Deal, David L. Skidmore
    180. DESBUQUOIS DYSPLASIA
    Céline Huber, Valérie Cormier-Daire
    Part D: Guanine Nucleotide-binding Proteins
    181. Extracellular Matrix and Signaling during Development
    joanna j. Phillips, scott b. selleck, and sally e. stringer
    182. GNAS and McCune-Albright/Fibrous Dysplasia, Albright Hereditary Osteodystrophy, and Pseudohypoparathyroidism
    LEE S. WEINSTEIN
    183. FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome); McKusick #305400
    Jerome L Gorski
    184. RAB3GAP1,RAB3GAP2,RAB18and TBC1D20 and the Warburg Microand Martsolf Syndromes
    IRENE ALIGIANIS AND MARK HANDLEY
    185. GPR56 and Bilateral Frontoparietal Polymicrogyria
    Amit Mukhia and Xianhua Piao
    186. ARHGAP31, DOCK6, RBPJ, EOGT and Adams-Oliver Syndrome
    LAURA SOUTHGATE and RICHARD C. TREMBATH
    Part E: Microtubule Motors and Cytoskeleton
    187. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration
    Anthony Wynshaw-Boris
    188. Classical Lissencephaly
    Joseph G. Gleeson and Deborah J. Morris Rosendahl
    189. Lissencephaly with Cerebellar Hypoplasia
    ERIC C. OLSON AND CHRISTOPHER A. WALSH
    190. FLNA and FLNB and Periventricular Nodular Heterotopia, the Otopalatodigital Spectrum Disorders, Spondylocarpotarsal Synostosis, Larsen Syndrome, and Atelosteogenesis Types I and III
    stephen p. robertson and deborah krakow
    191. Tessier 4 Oblique Facial Clefts
    Valeriy Shubinets, Eric Lao, and Richard Maas
    192. Deletion of 7q11.23 Genes and Williams Syndrome
    Li Dai, Anna Järvinen, Ursula Bellugi, Debra L. Mills, Timothy T. Brown, Eric Halgren, Barbara R. Pober, AND Julie R. Korenberg
    193. SH3PXD2B and Frank-Ter Haar syndrome
    Hans van Bokhoven
    Part F: Vesicle-mediated Trafficking and Endocytosis
    194. Inborn Defects of Membrane Trafficking
    elina ikonen
    195. VPS13B and Cohen Syndrome
    FORBES D .C. MANSON, KATE E. CHANDLER, GRAEME C. M. BLACK, AND DEBORAH J. MORRIS-ROSENDAHL
    196. VPS33B, VIPAS39 and the Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
    Paul Gissen
    197. SEC23A and Cranio-Lenticulo-Sutural Dysplasia
    Jinoh Kim and Simeon A. Boyadjiev
    198. Griscelli Syndrome
    HAGGIT HURVITZ, ANDREW R. CULLINANE, MARJAN HUIZING, AND YAIR ANIKSTER
    Part G: Extracellular Matrix
    199. Extracellular Matrix and Signaling during Development
    joanna j. Phillips, scott b. selleck, and sally e. stringer
    200. GPC3 and the Simpson-Golabi-Behmel Syndrome
    Michael R. DeBaun, Rick A. Martin, and Scott Saunders
    201. HSPG2 (perlecan), The Silverman-Handmaker type of Dyssegmental Dysplasia,and the Schwartz-Jampel Syndrome
    SOPHIE NICOLE, ANDBERTRAND FONTAINE
    202. L1CAM and X-linked Hydrocephalus (L1 syndrome)
    YVONNE VOS, JEAN-PIERRE FRYNS, AND CONNIE SCHRANDER-STUMPEL
    203. 3M SYNDROME
    Céline HUBER AND Valérie Cormier-Daire
    204. Human MMP-2/MT1-MMP Deficiency: The Multicentric Osteolysis with Nodulosis and Arthropathy (MONA) and Winchester Syndromes
    Rebecca A. Mosig and John A. Martignetti
    205. ADAMTS10, ADAMTS17 and FBN1 / the Weill-Marchesani Syndrome
    carine le goff and valÉrie cormier-daire
    206. Fraser Syndrome and Related Conditions
    peter scambler
    207. COMP and Pseudoachondroplasia
    mATTHEW j. rOCK AND dANIEL h. cOHN
    208. Walker-Warburg syndrome: Genetic heterogeneity converging at the abnormal glycosylation of alpha-dystroglycan
    Moniek Riemersma, Dirk J. Lefeber, and Hans van Bokhoven
    209. HPSE2 and LRIG2 and the Urofacial syndrome
    HELEN M. STUART, ADRIAN S. WOOLF, and WILLIAM G. NEWMAN
    210. Bifid Nose, Anorectal Malformation and Renal Agenesis (BNAR) Syndrome
    Fowzan S Alkuraya
    211. CHST14, DSE and the Musculocontractural Type of Ehlers-Danlos Syndrome (Adducted Thumb-Clubfoot Syndrome)
    Andreas R. Janecke
    212. ADAMTSL2/FBN1 and the Geleophysic Dysplasia
    Carine Le Goff AND Valérie Cormier-Daire
    213. SYNPOLYDACTYLY AND MUTATIONS IN THE HOXD13 GENE
    Philippe DEBEER, Przemko TYLZANOWSKI, and Nathalie BRISON
    214. Knobloch Syndrome
    Fowzan S. Alkuraya
    Part H: Junctions, Transporters, and Channels
    215. GJA1 (CONNEXIN 43) AND THE OCULODENTODIGITAL SYNDROME
    REBECCA J. RICHARSON AND MICHAEL J. DIXON
    216. KCNJ2 AND THE ANDERSEN-TAWIL SYNDROME
    DAVID R. RENNER, RABITA WIL, MARTIN TRISTANI, F. IROUZI, AND LOUIS J. PTÁ?EK
    217. ANKH AND CRANIOMETAPHYSEAL DYSPLASIA
    UWE KORANK, PETER NÜRNBERG AND SIGRID TINSCHERT
    VII: Dysmorphic Disease Genes of Unknow Function or Unclassified
    218. Role of EVC and EVC2 in Ellis-van Crevel Syndrome
    Marzena Galdzicka, Janice Egeland, and Edward Ginns
    219. P450 oxidoreductase deficiency and Antley-Bixler syndrome
    Walter L. Miller
    220. TRIM37 and mulibrey nanism
    Kaisa Kettunen, Niklas Karlberg, Susann Karlberg, Hannu Jalanko, Marita Lipsanen-Nyman AND Anna-Elina Lehesjoki
    221. KIAA1279 and Goldberg-Shprintzen Syndrome
    ALICE S. BROOKS AND ROBERT M. W. HOFSTRA
    222. GLMN and Glomuvenous Malformation
    PASCAL BROUILLARD, LAURENCE M. BOON, AND MIIKKA VIKKULA
    223. The Roles of KRIT1, CCM2, and PDCD10 in the Pathogenesis of Cerebral Cavernous Malformations
    David A. McDonald and Douglas A. Marchuk
    224. Proteus Syndrome
    Leslie G. Biesecker
    225. Microphthalmia 9 (PDAC)
    Julie PLAISANCI, and Nicolas CHASSAING,
    226. Ichthyosis prematurity syndrome
    Joakim Klar, Anders Vahlqvist, and Niklas Dahl
    227. Microphthalmia with linear skin lesions (MLS) syndrome, an unconventional mitochondrial disorder
    AlessiaIndrieri, , Brunella Franco
    228. Mutations in SCARF2 are responsible for the van den Ende- Gupta Syndrome (VDEGS)
    L. Jerome-Majewska