Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Marie VincentDavid GenevieveAgnès OstertagSandrine MarlinDidier LacombeDominique Martin-CoignardChristine CoubesAlbert DavidStanislas LyonnetCatheline VilainAnne Dieux-CoeslierSylvie ManouvrierBertrand IsidorMarie-Line JacquemontSophie JuliaValérie LayetSophie NaudionSylvie OdentLaurent PasquierSybille PelrasNicole PhilipGeneviève PierquinFabienne PrieurNisrine AboussairTania Attie-BitachGeneviève BaujatPatricia BlanchetCatherine BlanchetHélène DollfusBérénice DorayElise SchaeferPatrick EderyFabienne GiulianoAlice GoldenbergCyril GoizetAgnès GuichetChristian HerlinLaetitia LambertBruno LeheupJelena MartinovicSandra MercierCyril MignotMarie-Laure MoutardMarie-José PerezLucile PinsonJacques PuechbertyMarjolaine WillemsHanitra RandrianaivoKateline SzakszonKateline SzaskonAnnick ToutainAlain VerloesJacqueline VigneronElodie SanchezPierre SardaJean-Louis LaplancheCorinne ColletPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect.