Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis.

Jianxiong Chen, Youqing Fu, Yan Sun,Xinlong Zhou,Qingming Wang, Cong Li,Haiming Yuan

Molecular genetics & genomic medicine（2023）

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摘要

These findings expand the variant spectrum of KCNJ16, enrich the clinical characteristics of HKTD, and provide a solid base for the genetic counseling, diagnosis and treatment of this condition.

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关键词

cardiogenic shock,hypokalemic metabolic acidosis,hypokalemic tubulopathy and deafness,KCNJ16

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