A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient

Gu, H; Yuan, ZZ; Xie, XH; Yang, YF; Tan, ZP

Tan, ZP (通讯作者),Cent South Univ, Clin Ctr Gene Diag & Therapy, Dept Cardiovasc Surg, Xiangya Hosp 2, Changsha, Peoples R China.

JOURNAL OF HUMAN GENETICS, 2022; 67 (10): 573

Abstract

Heterotaxy syndrome is a very rare congenital disease, which is caused by the disorder of left-right asymmetry during visceral development. However, p......

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