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Contents Contributors I GENERAL CONCEPTS 1. Human Malformations and Their Genetic Basis Charles J. Epstein 2. Principles of Differentiation and Morphogenesis Scott F. Gilbert 3. Model Organisms in the Study of Development and Disease Ethan Bier and William McGinnis 4. Consequences of the Genome Project for Understanding Development Leena Peltonen II PATTERNS OF DEVELOPMENT 5. Developmental Origins of the Mammalian Body Plan Angela J. Villar and Stephanie M. Ware 6. Neural Crest Formation and Craniofacial Development Kurt A. Engleka, Deborah Lang, Christopher B. Brown, Nicole B. Antonucci, and Jonathan A. Epstein 7. Development of the Nervous System John L.R. Rubenstein and Luis Puelles 8. Development of the Eye Joe Rainger, Veronica van Heyningen, and David R. FitzPatrick 9. Development of the Ear Donna M. Fekete 10. Molecular Regulation of Cardiogenesis Vishal Nigam and Deepak Srivastava 11. Development of the Vascular System Carmen M. Barnes, Emily Christison-Lagay, Sui Huang and Arja Kaipainen 12. Muscle and Somite Development Douglas Anderson, Jerry M. Rhee. and Alan Rawls 13. The Development of Bone and Cartilage Shunichi Murakami, Haruhiko Akiyama, and Benoit de Crombrugghe 14. Development of the Limbs Sahar Nissim 15. The Sex Determination Pathway Robert P. Erickson 16. Development of the Kidney Mita M. Shah, Dylan L. Steer. Derina E. Sweeney, and Sanjay K. Nigam 17. Development of Endodermal Derivatives in the Lung, Liver, Pancreas, and Gut Ben Z. Stanger 18. Development of Epidermal Appendages: Teeth and Hair Atsushi Ohazama and Paul T. Sharpe III DEFINED PATHWAYS Part A. The Sonic Hedgehog Signaling Pathway 19. The Sonic Hedgehog Signaling Pathway Philip Iannaccone, Robert Holmgren, Marilyn L.G. Lamm, Sara Ahlgren, Olga Lakiza, Joon Won Yoon and David Walterhouse 20. DHCR7 and the Smith-Lemli-Opitz (RSH) Syndrome and Cyclopamine Teratogenesis Mira Irons 21. SHH and Other Genes and the Holoprosencephaly Malformation Sequence Jill A. Helms, Samantha Brugmann, and Dwight R. Cordero 22. IHH and Acrocapitofemoral Dysplasia and Brachydactyly A1 Jan Hellemans and Geert R. Mortier 23. PTCH and the Basal Cell Nevus (Gorlin) Syndrome Ervin Epstein, Jr. 24. GLI3 and the Pallister-Hall and Greig Cephalopolysyndactyly Syndromes Leslie G. Biesecker 25. SALL1 and the Townes-Brocks Syndrome Jürgen Kohlhase Part B. The Wnt (Wingless-Type) Signaling Pathway 26. The Wnt Signaling Pathway Lorna S. Kategaya, Laird C. Sheldahl and Randall T. Moon 27. WISP3 and Progressive Pseudorheumatoid Dysplasia Wafaa Suwairi and Matthew L. Warman 28. AXIN2 and Tooth Agenesis and Colorectal Cancer Pekka Nieminen, Laura Lammi, and Heikki J. Jarvinen 29. WNT3 and Tetra-amelia Stephan Niemann 30. ROR2 and Brachydactyly Type B and Recessive Robinow Syndrome Andrew O.M. Wilkie Part C. The Transforming Growth Factor ß (TGF- ß) Signaling Pathway 31. The Transforming Growth Factor ß (TGF-ß) Signaling Veronica Descotte, Michael B. O¿Connor, and Joy Jadrich 32. NOG and Proximal Symphalangism (SYM1) and Multiple Synostosis (SYN1), Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis Stefan Mundlos 33. ZIC3, CFC1, ACVR2B, and EBAF and the Visceral Heterotaxies Stephanie M. Ware and John W. Belmont 34. CDMP1 and Chondrodysplasia (Grebe, Hunter-Thompson, and Du Pan Types) and Brachydactyly, Type C Michael W. Kilpatrick and Petros Tsipouras 35. ENG, ALK1, and Smad4 in Vascular Morphogenesis and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) Sudha Srinivasan, Jonathan N. Berg, and Douglas A. Marchuk 36. RUNX2 and Cleidocranial Dysplasia Patricia Fonseca, Brendan Lee, and Dobrawa Napierala 37. AMH/MIS and Its Receptors: the Persistent Müllerian Duct Syndrome Jean-Yves Picard 38. LEMD3 and Osteopoikilosis, the Buschke-Ollendorff Syndrome and Melorheostosis Jan Hellemans and Geert R. Mortier 39. TGFBR1/2 and Loeys-Dietz Syndrome Bart L. Loeys and Harry C. Dietz 40. ZFHX1B (SIP1) and Mowat-Wilson Syndrome Meredith Wilson, Michel Goossens, Florence Dastot-Le Moal, and David Mowat Part D. The Tumor Necrosis Factor Signaling Pathway 41. Signaling by TNF and Related Ligands Pascal Schneider 42. ED1, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias and Ectodysplasin Signaling Pathway Jonathan Zonana Part E. The Fibroblast Growth Factor Signaling Pathway 43. Molecular and Cellular Biology of FGF Signaling David Givol and V. P. Eswarakumar 44. FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes Andrew O.M. Wilkie 45. FGF10, FGFR2, and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome Jeff M. Milunsky 46. TWIST and the Saethre-Chotzen Syndrome Ethylin Wang Jabs 47. KAL1, FGFR1, PROKR2, and PROK2 and Kallman Syndrome Jean-Pierre Hardelin and Catherine Dodé 48. TIE2 and Cutaneomucosal Venous Malformation Vinciane Wouters, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula 49. VEGFR3 and Milroy Disease Robert E. Ferrell Part F. The Glial Cell¿Derived Neurotrophic Factor Signaling Pathway 50. Signaling Pathways of Glial Cell¿Derived Neurotrophic Factor Louis F. Reichardt 51. RET and Hirschprung Disease and Multiple Endocrine Neoplasia Type 2 Andrew S. McCallion and Aravinda Chakravarti Part G. The Endothelin Signaling Pathway 52. Introduction to Endothelin-3/Endothelin-B Receptor and SOX10-Signaling Pathways Cheryl E. Gariepy 53. EDNRB, EDN3 and SOX10 and the Shah-Waardenburg Syndrome (WS4) Joke B.G.M. Verheij and Robert M.W. Hofstra Part H. The Notch Signaling Pathway 54. Introduction to Notch Signaling Alison Miyamoto and Gerry Weinmaster 55. JAG1 and NOTCH2 and the Alagille Syndrome Nancy B. Spinner and Ian D. Krantz 56. DLL3, MESP2, and LFNG and Spondylocostal Dysostosis Peter D. Turnpenny, Kenro Kusumi, and Sally Dunwoodie Part I. The PI3K-LKB1 Pathway 57. The PI3K-LKB1 Pathway Reuben J. Shaw and Lewis C. Cantley 58. PTEN and the Cowden and Bannayan-Riley-Ruvalcaba Syndromes Kevin M. Zbuk and Charis Eng 59. STK11 and Peutz-Jeghers syndrome Stylianos Antonarakis 60. TSC1 and TSC2 and Tuberous Sclerosis David J. Kwiatkowski Part J. The RAS Pathway 61. The RAS Pathway Jeffrey Swensen and David Viskochil 62. NF1 and Neurofibromatosis 1 Girish C. Daginakatte and David H. Gutmann 63. RAS Signaling Defects and Noonan Syndrome Marco Tartaglia and Bruce D. Gelb 64. HRAS and Costello Syndrome Yoko Aoki and Yoichi Matsubara 65. The RAS/MAPK Pathway the Cardio-Facio-Cutaneous Syndrome Kate Rauen 66. RASA1 and Capillary Malformation and Arteriovenous Malformations Nicole Revencu, Laurence M. Boon, John B. Mulliken, and Miikka Vikkula IV GENE FAMILIES NOT YET IN PATHWAYS Part A. The Homeobox Gene Family 67. The Role of Hox and D1x Gene Clusters in Evolution and Development Frank H. Ruddle 68. HOXA1 and the Bosley-Salih-Alorainy and Athabascan Brainstem Dysgenesis Syndromes Max A. Tischfield and Elizabeth C. Engle 69. HOXA11 and Amegakaryocytic Thrombocytopenia with Radioulnar Synostosis and Thrombocytopenia Amy E. Geddis 70. HOXA13 and the Hand-Foot-Genital and Guttmacher Syndromes Jeffrey W. Innis 71. HOXD10 and Congenital Vertical Talus Antony E. Shrimpton and E. Mark Levinsohn 72. HOXD13 and Synpolydactyly Frances R. Goodman and Peter J. Scambler 73. EMX2 and HESX1 and Type II Schizencephaly and Septo-Optic Dysplasia Dan Kelberman and Mehul T. Dattani 74. PDX1 and Pancreatic Agenesis and Type 2 Diabetes Melissa K. Thomas and Joel F. Habener 75. MSX1 and Partial Anondontia and the Witkop Syndrome Marie-Jose H. van den Boogaard 76. MSX2 and ALX4 and Craniosynostosis and Defects of Skull Ossification Ulrich Müller 77. SHOX and Dyschondrosteosis and Turner Syndrome Jay W. Ellison 78. HLXB9 and Sacral Agenesis and the Currarino Syndrome Stephen Scherer, Giuseppe Martucciello, Elena Belloni, and Michele Torre 79. EYA1 and the Branchio-Oto-Renal Syndrome Fowzan S. Alkuraya , Robert T. Moy and Richard L. Maas 80. PITX2 and PITX3 and the Axenfeld-Rieger Syndrome, Peters Anomaly Anterior Segment Ocular Dysgenesis, Ring Dermoid of the Cornea, Posterior Polar Congenital Cataract (CPP4) and Microphthalmia with Neurologic Impairment Elena V. Semina 81. NKX2E and Congenital Heart Disease Avihu Z. Gazit, Susan N. Foerster and Patrick Y. Jay 82. LMX1B and the Nail Patella Syndrome Roy Morello, Jennifer N. Lennington, and Brendan Lee 3 Part B. The Paired-Box (PAX) Gene Family 83. Introduction to Paired-Box Genes Petros P. Petrou and Peter Gruss 84. PAX2 and the Renal-Coloboma Syndrome Michael R. Eccles 85. PAX3 and Waardenburg Syndrome Type 1 Gareth N. Corry and D. Alan Underhill 86. PAX6 and Aniridia and Related Phenotypes Veronica van Heyningen and Kathleen Williamson 87. PAX9 and Hypodontia Pragna I. Patel and Donald T. Brown Part C. The Forkhead Gene Family 88. Introduction to Forkhead Genes Naoyuki Miura, XiaoDong Xue, and Tatsuo Itakura 89. FOXC1 and FOXL2 and the Axenfeld-Rieger Malformations and the Blepharophomisis- Ptosis-Epicanthus Inversus Syndrome Fred B. Berry, Lijia Huang, Ramsey A. Saleem, and Michael A. Walter 90. FOXC2 and Lymphedema Distichiasis Robert P. Erickson 91. FOXE1 and Choanal Atresia, Cleft Palate, and Thyroid Agenesis Mireille Castanet and Michel Polak Part D. The T-Box Gene Family 92. Introduction to the T-Box Genes and Their Roles in Developmental Signaling Pathways Virginia E. Papaioannou and Sarah N. Goldin 93. TBX1 and the DiGeorge Syndrome Critical Region Scott E. Klewer, Raymond B. Runyan, and Robert P. Erickson 94. TBX3 and TBX5 and the Ulnar-Mammary and Holt-Oram Syndromes Michael J. Bamshad and Lynne B. Jorde 95. TBX22 and X-linked Cleft Palate and Ankyloglossia Erwin Pauws and Philip Stanier Part E. The SOX Gene Family 96. The SOX Genes in Development and Disease Brett Hosking and Peter Koopman 97. SOX2 and Malformations of the Eye, Brain, Foregut, and Male Genital Tract David R. FitzPatrick 98. SOX3 and Infundibular Hypoplasia Dan Kelberman and Mehul Dattani 99. SOX9 and Campomelic Dysplasia and Sex Reversal Sahar Mansour 100. SOX18 and Hypotrichosis-Lymphedema-Telangiectasia Syndrome Arash Ghalamkarpour, Koen Devriendt and Miikka Vikkula V PROCESSES Part A. Regulation of Chromatin Structure and Gene Expression 101. Mechanisms of Regulated Gene Transcription Kirstin Jepsen, Valentina Perissi, Victoria Lunyak, Michael G. Rosenfeld, and Christopher K. Glass 102. CBP and the Rubenstein-Taybi Syndrome Fred Petrij, Dorien J.M. Peters, Raoul C.M. Hennekam, and Rachel H. Giles 103. ATRX and the X-Linked ?-Thalassemia Mental Retardation Syndrome Richard J. Gibbons and Takahito Wada 104. IGF2, H19, p57KIP2, and LIT1 and the Beckwith-Wiedemann Syndrome Michael R. DeBaun and Andrew P. Feinberg 105. 15q11¿13 and the Prader-Willi Syndrome Shawn E. McCandless and Suzanne B. Cassidy 106. DNMT3B and the Immunodeficiency¿Centrometric Instability¿Facial Anomalies Syndrome Deborah Bourc¿his, Francoise Ledeist, and Evani Viegas-Pequignot 107. RSK2 and the Coffin-Lowry Syndrome Maria Zeniou, Sylvie Jacquot, Jean-Pierre Delaunoy, and Andre Hanauer 108. BCOR and the Oculofaciocardiodental Syndrome Emma Hilton, Graeme Black, and Vivian Bardwell 109. CDH7 and the CHARGE Syndrome Joris A. Veltman and Conny M.A. van Ravenswaaij-Arts 110. CTDP1 and Congenital Cataracts, Facial Dysmorphism, and Neuropathy Luba Kalaydjieva and Rebecca Gooding 111. ESCO2 and Roberts Syndrome Miriam Gordillo, Hugo Vega, and Ethylin Wang Jabs 112. NIPBL and SMC1L1 and the Cornelia de Lange Syndrome Matthew A. Deardorff and Ian D. Krantz 113. NSD1 and Sotos Syndrome Remco Visser and Naomichi Matsumoto Part B. Transcription Factors 114. MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes Thomas J. Hornyak, Nancy M. Chung, and Masayoshi Tachibana 115. POU3F4 and Mixed Deafness with Temporal Bone Defect (DFN3) Frans P.M. Cremers, Cor W.R.J. Cremers , and H. Kremer 116. TFAP2B and the Char Syndrome Sindhu Veetil and Bruce D. Gelb 117. GATA3 and Hypoparathyroidism, Deafness, and Renal Disease R.V. Thakker 118. FOG2 and GATA4 and Congenital Heart Disease and Diaphragmatic Hernia Anne Slavotinek 119. IRF6 and the Van der Woude, Popliteal Pterygium Syndromes and the Risk for Non-syndromic Cleft Lip and Palate Brian C. Schutte, Michael J. Dixon, and Jeffrey C. Murray 120. PTF1A and Pancreas and Cerebellar Agenesis Jayne A.L. Minton and Andrew T. Hattersley 121. RAI1 and the Smith-Magenis and dup(17)(p11.2p11.2) Syndromes Weiman Bi and James Lupski 122. SALL4 and the Okihiro/Duane Radial-Ray and Acrorenalocular Syndromes Jürgen Kohlhase 123. TCF2 (HNF1) and MODY5 and Urogenital Malformations Oddmund Sovik, Jorn V. Sagen, and Pål R. Njølstad 124. ZIC1 and ZIC4 and the Dandy-Walker Malformation Kathleen J. Millen, Inessa Grinberg, Marissa Blank, and William B. Dobyns Part C. RNA Localization and Control of Activity 125. Post-Transcriptional Control: Nuclear RNA Processing Maurice S. Swanson and John P. Aris 126. FMR1 and the Fragile X Syndrome Kathryn B. Garber, Daniel Gruskin and Stephen T. Warren 127. TCOF1 (Treacle) and the Treacher Collins Syndrome Jill Dixon, Paul A. Trainor, and Michael J. Dixon 128. RMRP and Cartilage Hair Hypoplasia Pia Hermanns, Bernhard Zabel, and Brendan Lee Part D. Post-Translational Control and Ubiquination 129. An Introduction to Post-translational Control by Ubiquitin-dependent Proteolysis Peter K. Jackson 130. UBE3A and the Angelman Syndrome Lowell Rayburn and Joseph Wagstaff 131. VHL and von Hippel-Lindau Disease Eamonn R. Maher 132. MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes Leslie G. Biesecker 133. PQBP1 and the Renpenning, Sutherland-Haan, Golabi-Ito-Hall, and Hamel Cerebropalatocardiac and XLMR Syndromes and Nonsyndromic XLMR Charles Schwartz 134. TBCE and the Hypoparathyroidism-Retardation-Dysmorphism (HRD) Syndrome George A. Diaz, Ruth Parvari, and Eli Hershkovitz 135. UBR1 and the N-end Rule Pathway and the Johansen-Blizzard Syndrome Martin Zenker 136. CUL7 and the 3M Syndrome Valerie Cormier-Daire Part E. Cell Cycle, Proliferation, and Apoptosis 137. 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 138. MYCN and Feingold Syndrome Hans van Bokhoven and Han G. Brunner 139. LMNA and LBR and the Hutchinson-Gilford Progeria Syndrome and Associated Laminopathies Leslie B. Gordon, W. Ted Brown, and Frank G. Rothman 140. Fanconi Anemia Henri van de Vrugt and Marcus Grompe 141. RECQL4 and the Rothmund-Thomson, Rapadilino, and Baller-Gerold Syndromes Lionel Van Maldergem, H. Annika Siitonen, Ethylin Wang Jabs, and Miriam Gordillo 142. p63 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-Ungal-Lacrimal-Digit (ADULT), and Rapp-Hodgkin Syndromes and Ectrodactyly (Split Hand/Foot Malformation) Michael J. Bamshad Part F. Guanine Nucleotide¿Binding Proteins 143. An Introduction to Guanine Nucleotide¿Binding Proteins Sarah E. Newey and Linda Van Aelst 144. GNAS and McCune-Albright Syndrome/Fibrous Dysplasia, Albright Hereditary Osteodystrophy/Pseudohypoparathyroidism Type IA, Progressive Osseous Heteroplasia, and Pseudohypoparathyroidism Type IB Lee S. Weinstein 145. FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome) Jerome L. Gorski 146. RAB3GAP1 and RAB3GAP2 and the Warburg Micro and Martsolf Syndromes Irene Aligianis and Eamonn R. Maher 147. NPR2 and Acromesomelic Dysplasia, type Maroteaux Matthew L Warman and Robert C. Olney 148. GPR56 and Bilateral Frontoparietal Polymicrogyria Xianhua Piao and Christopher A. Walsh Part G. Microtubule Motors, Cilia, and Cytoskeleton 149. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration Yong-Ha Youn, Tiziano Pramparo, and Anthony Wynshaw-Boris 150. LIS1 and DCX and Classical Lissencephaly Joseph G. Gleeson 151. RELN and Lissencephaly with Cerebellar Hypoplasia Eric C. Olson and Christopher A. Walsh 152. DNAI1, DNH5, and RPGR and Primary Ciliary Dyskinesia (Kartagener Syndrome) Michal Witt 153. 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 154. The Molecular Basis of Joubert Syndrome and Related Disorders Michael R. Zimbrie and Joseph G. Gleeson 155. The Bardet-Biedl Syndromes Val C. Sheffield, Qihong Zhang, Elise Heon, Edwin M. Stone, and Rivka Carmi 156. The Molecular basis of the Oral-Facial Digital Type 1 (OFD1) Syndrome Brunella Franco 157, MKS Genes and the Meckel syndrome Marjo Kestila and Leena Peltonen Part H. Vesicle-Mediated Trafficking and Endocytosis 158. Inborn Defects of Membrane Trafficking Elina Ikonen 159. VPS13B and the Cohen Syndrome Forbes D.C. Manson, Kate E. Chandler, and Graeme G.C. Black 160. SNAP29 and the Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome Hannah Mandel, Eli Sprecher, Deborah Rappaport, and Mia Horowitz 161. VPS33B and the Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome Eamonn R. Maher and Paul Gissen 162. SEC23A and Cranio-Lenticulo-Sutural Dysplasia Simeon A. Boyadjiev Part I. Extracellular Matrix 163. Extradelluar Matrix and Signaling during Development Scott B. Selleck and Sally E. Stringer 164. GPC3 and the Simpson-Golabi-Behmel Syndrome Scott Saunders, Rick A. Martin, and Michael R. DeBaun 165. HSPG2 and the Schwartz-Jampel Syndrome and Dyssegmental Dysplasia, Silverman-Handmaker Type Sophie Nicole, Morgane Stum, and Bertrand Fontaine 166. L1CAM and X-Linked Hydrocephalus Connie Schrander-Stumpel and Jean-Pierre Frijns 167. COMP and Pseudoachondroplasia Michael J. Rock and Daniel H. Cohn 168. MMP2 and the Multicentric Osteolysis, Nodulosis and Arthropathy (MONA) and Winchester Syndromes Rebecca A. Mosig, Oonagh Dowling, and John A. Martignetti 169. ADAMTS10 and the Weill-Marchesani Syndrome C. Le Goff, N. Dagoneau, and Valerie Cormier-Daire 170. FRAS1 and FREM2 and the Fraser Syndrome Ian Smyth and Peter Scambler 171. TRPS1 and the Tricho-Rhino-Phalangeal Syndrome Hermann-Josef Ludecke and Bernhard Horsthemke Part J. Guidance Molecules 172. EFNB1 and EFNA4 and the Craniofrontonasal Syndrome and Craniosynostosis Stephen R.F. Twigg and Andrew O.M. Wilkie Part K. Transporters and Channels 173. GJA1 (Connexin 43) and the Oculodentodigital Syndrome Rebecca J. Richardson and Michael J. Dixon 174.KCNJ2 and the Andersen-Tawil Syndrome David R. Renner, Rabi Tawil, Martin Tristani-Firouzi, and Louis J. Ptacek 175. ANKH and Craniometaphyseal Dysplasia Peter Nürnberg and Sigrid Tinschert VI DYSMORPHIC DISEASE GENES OF UNKNOWN FUNCTION OR UNCLASSIFIED 176. LMBR1 and Acheiropodia and Preaxial Polydactyly Petros Tsipouras and Michael W. Kilpatrick 177. DAX1 and X-linked Adrenal Hypoplasia Congenita and XY Sex Reversal Eric Vilain and Edward R. B. McCabe 178. EVC and EVC2 and the Ellis-van Creveld Syndrome and Weyers Acrofacial Dysotosis Marzena Galdzicka, Janice A. Egeland, and Edward I . Ginns 179. POR and the Antley-Bixler Syndrome Walter L. Miller 180. TRIM37 and Mulibrey Nanism Riika Hamalainen, Niklas Karlberg, Jukka Kallijarvi, Marita Lipsanen-Nyman, and Anna-Elina Lehesjoki 181. Deletion of 7q11.23 genes and the Williams Syndrome Julie R. Korenberg, Li Dai, Ursula Bellugi, Anna P.Pasley, Debra L. Mills, Albert Galaburda, Allan Reiss, and Barbara R. Pober 182. KIAA1279 and Goldberg-Shprintzen Syndrome Alice S. Brooks and Robert M.W. Hofstra 183. GLMN and Glomulovenous Malformation Pascal Brouillard, Odile Enjolras, Laurence M. Boon and Miikka Vikkula 184. AGGF1 and the Klippel-Trenaunay Syndrome Mohammed Reza Amini and Qing K. Wang 185. KRIT1, Malcavernin (CCM2), and PDCD10 in the Pathogenesis of Cerebral Cavernous Malformations Amy L. Jacon and Douglas A. Marchuk
Library of Congress Subject Headings for this publication:
Genetic disorders.
Developmental disabilities -- Genetic aspects.
Genetic disorders in children.
Developmental genetics.
Genetic Diseases, Inborn -- genetics.
Abnormalities -- genetics.
Human Development.