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

ConclusionThese findings expand the variant spectrum ofKCNJ16, enrich the clinical characteristics of HKTD, and provide a solid base for the genetic counseling, diagnosis and treatment of this condition.

Source: Molecular Genetics & Genomic Medicine - July 19, 2023 Category: Genetics & Stem Cells Authors: Jianxiong Chen, Youqing Fu, Yan Sun, Xinlong Zhou, Qingming Wang, Cong Li, Haiming Yuan Tags: ORIGINAL ARTICLE Source Type: research