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Limb abnormalities on trisomy 18: evidences for early diagnosis по Rafael Fabiano Machado Rosa, na Cardoso Manique Rosa, Marina Boff Lorenzen, Paulo Ricardo Gazzola Zen, Ceres Andréia Vieira de Oliveira, Carla Graziadio, Giorgio Adriano Paskulin

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Ectodermal dysplasias: a new clinical-genetic classification по Manuela Priolo

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Congenital deformity of the paw in a captive tiger: case report по Sheila Canevese Rahal, Reinaldo S Volpi, Carlos Roberto Teixeira, Vania MV Machado, Guilherme DP Soares, Carlos Neto, Kathleen Linn

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SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice по Ippei Okada, Haruka Hamanoue, Koji Terada, Takaya Tohma, André Mégarbané, Éliane Chouery, Joelle Abou‐Ghoch, Nadine Jalkh, Özgür Çoğulu, Ferda Özkınay, Kyoji Horie, Junji Takeda, Tatsuya Furuichi, Shiro Ikegawa, Kiyomi Nishiyama, Satoko Miyatake, Akira Nishimura, Takeshi Mizuguchi, Norio Niikawa, Fumiki Hirahara, Tadashi Kaname, Koh-ichiro Yoshiura, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Takahisa Furukawa, Naomichi Matsumoto, Hirotomo Saitsu

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Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations по Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu, Sylvie Manouvrier, Andrew Dwyer, Gerasimos P. Sykiotis, Andrew Beenken, Yang Liu, Johanna Tommiska, Youli Hu, Dov Tiosano, Marion Gérard, Juliane Léger, Valérie Drouin‐Garraud, Hervé Lefèbvre, Michel Polak, Jean‐Claude Carel, Franziska Phan-Hug, Michael Hauschild, Lacey Plummer, Jean-Pierre Rey, Taneli Raivio, Pierre Bouloux, Yisrael Sidis, Moosa Mohammadi, Nicolás de Roux, Nelly Pitteloud

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p63-Associated Disorders по Tuula Rinne, H.G. Brunner, Hans van Bokhoven

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Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) по Klaus Kjaer

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TP63 gene mutation in ADULT syndrome по Jeanne Amiel, Gaëlle Bougeard, Christine Francannet, Valérie Raclin, Arnold Münnich, Stanislas Lyonnet, Thierry Frébourg

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Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27 по Peter Ianakiev, Michael W. Kilpatrick, Iva Toudjarska, Donald Basel, Peter Beighton, Petros Tsipouras

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P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle по Yutaka Shimomura, Muhammad Wajid, Lawrence Shapiro, Angela M. Christiano

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Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome по Xiuli Zhao, Miao Sun, Jin Zhao, J. Alfonso Leyva, Hongwen Zhu, Wei Yang, Xuan Zeng, Yang Ao, Qing Liu, Guoyang Liu, Wilson H.Y. Lo, Ethylin Wang Jabs, L. Mario Amzel, Xiangnian Shan, Xue Zhang

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Deletions in HOXD13 Segregate with an Identical, Novel Foot Malformation in Two Unrelated Families по Frances R. Goodman, M. L. Giovannucci-Uzielli, Christine M Hall, William Reardon, Robin Winter, Peter Scambler

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Regulation of number and size of digits by posterior <i>Hox</i> genes: A dose-dependent mechanism with potential evolutionary implications по József Zákány, Catherine Fromental-Ramain, Xavier Warot, Denis Duboule

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Twenty-four cases of the EEC syndrome: clinical presentation and management. по P W Buss, Helen E. Hughes, A Clarke

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A novel c.1037C &gt; G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome по Leandro Ucela Alves, Eliete Pardono, Paulo Alberto Otto, Regina Célia Mingroni‐Netto

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Limb Mammary Syndrome: A New Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot Anomalies Maps to Human Chromosome 3q27 по Hans van Bokhoven, Martin Jung, Arie P.T. Smits, Sylvia E. C. van Beersum, Franz Rüschendorf, Maurice A. M. Van Steensel, Monique Veenstra, J.H.A.M. Tuerlings, Edwin C.M. Mariman, Han G. Brunner, Thomas F. Wienker, André Reis, Hans‐Hilger Ropers, Ben C.J. Hamel

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Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome по Jacopo Celli, Pascal H. G. Duijf, Ben C.J. Hamel, Michael J. Bamshad, Bridget Kramer, Arie Smits, Ruth Newbury‐Ecob, Raoul C. M. Hennekam, Griet Van Buggenhout, Arie van Haeringen, C. Geoffrey Woods, Anthonie J. van Essen, Rob de Waal, Gert Vriend, Daniel A. Haber, Annie Yang, Frank McKeon, Han G. Brunner, Hans van Bokhoven

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p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation по Hans van Bokhoven, Ben C.J. Hamel, Mike Bamshad, Eugenio Sangiorgi, Fiorella Gurrieri, Pascal H. G. Duijf, Kaate R. J. Vanmolkot, Ellen van Beusekom, Sylvia E. C. van Beersum, Jacopo Celli, Gerard Merkx, Romano Tenconi, J. P. Fryns, Alain Verloès, Ruth Newbury‐Ecob, Annick Raas‐Rotschild, Frank Majewski, Frits A. Beemer, Andreas Janecke, David Chitayat, Giangiorgio Crisponi, Hülya Kayserili, John R.W. Yates, Giovanni Neri, Han G. Brunner

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XX TRUE HERMAPHRODITISM ASSOCIATED TO MULTIPLE MALFORMATION. ABSENCE OF Y-SPECIFIC DNA SEQUENCES AND NORMAL H-Y ANTIGEN EXPRESSION по Ivo J.P. Arnhold, Berenice B. Mendonça, W Bloise, E M Frade, F O Russo, Maria Aparecida de Medeiros, I E Ferraz-Costa, Carlos Alberto Moreira‐Filho

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Limbal Stem Cell Deficiency and Ocular Phenotype in Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Caused by p63 Mutations по Enzo Di Iorio, Stephen B. Kaye, Diego Ponzin, V. Barbaro, Stefano Ferrari, Elisabetta Böhm, Paola Nardiello, Giuseppe Castaldo, John A. McGrath, Colin E. Willoughby

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