Epstein's Inborn Errors of Development

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, Rosa Barrio and James D. Sutherland 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