Table of contents for Inborn errors of development : the molecular basis of clinical disorders of morphogenesis / edited by Charles Epstein, Robert P. Erickson, Anthony Wynshaw-Boris.

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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.