Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction

Human heterotaxy is a group of congenital disorders characterized by misplacement of one or more organs according to the left-right axis. The genetic causes of human heterotaxy are highly heterogeneous. We performed exome sequencing in a cohort of 26 probands with heterotaxy followed by gene burden...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Circulation. Genomic and precision medicine 2020-12, Vol.13 (6), p.e003000-e003000
Hauptverfasser:	Ma, Alvin Chun Hang, Mak, Christopher Chun Yu, Yeung, Kit San, Pei, Steven Lim Cho, Ying, Dingge, Yu, Mullin Ho Chung, Hasan, Kazi Md Mahmudul, Chen, Xiangke, Chow, Pak Cheong, Cheung, Yiu Fai, Chung, Brian Hon Yin
Format:	Artikel
Sprache:	eng
Schlagworte:	Original
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!