Codi QR

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...

Descripció completa

Guardat en:
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Istanbul University Press 2025-01-01
Col·lecció:İstanbul Tıp Fakültesi Dergisi
Matèries:
mowat-wilson syndrome
zeb2
intellectual disabili ty
charge syndrome
aicardi syndrome
Accés en línia:https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/4973506137ED40DB963CD6C2DD0A689C
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars