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Article

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

Circulation. Genomic and precision medicine - 1 Dec 2020

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

Abstract excerpt

BACKGROUND: 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 gene burden analysis for the enrichment of novel rare damaging mutations. Transcription activator-like...

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PMID: 33196317
DOI: 10.1161/CIRCGEN.120.003000
PMCID: PMC7748040

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Source receipt: pubmed, retrieved 7 Sept 2026.

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