Case Report: A rare stop-gained MYZAP mutation is associated with atrioventricular septal defects in an Arabian family

BackgroundAtrioventricular septal defects (AVSDs) represent a diverse group of congenital cardiac malformations arising from abnormal development of the endocardial cushions. Although several transcription factors have been implicated in septation, the contributions of structural proteins involved i...

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Principais autores:	Zaher Zaher, Gaser Abdelmohsen, Saud Bahaidarah, Faris Baamer, Angham Abdulrhman Abdulkareem, Abdulmajeed F. Alrefaei, Muhammad Imran Naseer, Muhammad Abu-Elmagd
Formato:	Artigo
Idioma:	Inglês
Publicado:	Frontiers Media S.A. 2026-07-01
Series:	Frontiers in Cardiovascular Medicine
Assuntos:	atrioventricular septal defects (AVSD) MYZAP Saudi Arabia stop-gain whole exome sequencing (WES)
Acceso en liña:	https://www.frontiersin.org/articles/10.3389/fcvm.2026.1866593/full
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