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A single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature

Wang, D; Chen, XH; Wen, Q; Li, ZJ; Chen, W; Chen, WF; Wang, X

Wang, X (通讯作者),Sun Yat Sen Univ, Affiliated Hosp 1, Dept Nephrol, 58 Zhongshan Rd 2, Guangzhou 510080, Peoples R China.;Chen, WF (通讯作者),Sun Yat Sen Univ, Affiliated Hosp 1, Dept Pathol, 58 Zhongshan Rd 2, Guangzhou 510080, Peoples R China.

MOLECULAR GENETICS & GENOMIC MEDICINE, 2022; 10 (12):

Abstract

Background: Nephronophthisis type 12 (NPHP 12) is a rare cilia-related cystic kidney disease, caused by TTC21B mutation, mainly involving the kidneys,......

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