Article
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2016
Vincent Marie, Geneviève David, Ostertag Agnès, Marlin Sandrine, Lacombe Didier, Martin-Coignard Dominique, Coubes Christine, David Albert, Lyonnet Stanislas, Vilain Catheline, Dieux-Coeslier Anne, Manouvrier Sylvie, Isidor Bertrand, Jacquemont Marie-Line, Julia Sophie, Layet Valérie, Naudion Sophie, Odent Sylvie, Pasquier Laurent, Pelras Sybille, Philip Nicole, Pierquin Geneviève, Prieur Fabienne, Aboussair Nisrine, Attie-Bitach Tania, Baujat Geneviève, Blanchet Patricia, Blanchet Catherine, Dollfus Hélène, Doray Bérénice, Schaefer Elise, Edery Patrick, Giuliano Fabienne, Goldenberg Alice, Goizet Cyril, Guichet Agnès, Herlin Christian, Lambert Laetitia, Leheup Bruno, Martinovic Jelena, Mercier Sandra, Mignot Cyril, Moutard Marie-Laure, Perez Marie-José, Pinson Lucile, Puechberty Jacques, Willems Marjolaine, Randrianaivo Hanitra, Szakszon Kateline, Szaskon Kateline, Toutain Annick, Verloes Alain, Vigneron Jacqueline, Sanchez Elodie, Sarda Pierre, Laplanche Jean-Louis, Collet Corinne
Abstract excerpt
PURPOSE: Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C. METHODS: We report a clinical...
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