MOWAT-WILSON SYNDROME: DEEP PHENOTYPING AND MOLECULAR CHARACTERISATION OF TWELVE NEW INDIVIDUALS

Objective: Mowat-Wilson syndrome (MOWS) is a rare multisystem malformation syndrome characterised by distinctive facial features, moderate to severe intellectual disability, and variable findings including callosal anomalies, ocular features, genital anomalies, congenital heart defects, and Hirschsp...

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Principais autores:	Umut Altunoğlu, Nilay Güneş, Gözde Tutku Turgut, Tuğba Kalaycı, Ayça Dilruba Aslanger, Murat Derbent, Serpil Eraslan, Birsen Karaman, Zehra Oya Uyguner, Beyhan Tüysüz, Yasemin Alanay, Hülya Kayserili Karabey
格式:	Artigo
語言:	Inglês
出版:	Istanbul University Press 2025-01-01
叢編:	İstanbul Tıp Fakültesi Dergisi
主題:	mowat-wilson syndrome zeb2 intellectual disabili ty charge syndrome aicardi syndrome
在線閱讀:	https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/4973506137ED40DB963CD6C2DD0A689C
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