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. METHODS: We performed exome sequencing in a cohort of 26 probands with heterotaxy followed by gen...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7748040/
https://www.ncbi.nlm.nih.gov/pubmed/33196317
http://dx.doi.org/10.1161/CIRCGEN.120.003000

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7748040/
https://www.ncbi.nlm.nih.gov/pubmed/33196317
http://dx.doi.org/10.1161/CIRCGEN.120.003000

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