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

Ma, ACH; Mak, CCY; Yeung, KS; Pei, SLC; Ying, DG; Yu, MHC; Hasan, KMM; Chen, XK; Chow, PC; Cheung, YF; Chung, BHY

Cheung, YF; Chung, BHY (corresponding author), Queen Mary Hosp, Dept Paediat & Adolescent Med, New Clin Bldg,102 Pokfulam Rd, Hong Kong, Peoples R China.

CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2020; 13 (6): 696

Abstract

Background: Human heterotaxy is a group of congenital disorders characterized by misplacement of one or more organs according to the left-right axis. ......

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