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

BACKGROUND: Biallelic pathogenic variants in the KCNJ16 gene result in hypokalemic tubulopathy and deafness (HKTD) (MIM #619406), which is a rare autosomal recessive disease characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid–base homeostasis, and sensorineural deafness....

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Detalles Bibliográficos
Autores principales: Chen, Jianxiong, Fu, Youqing, Sun, Yan, Zhou, Xinlong, Wang, Qingming, Li, Cong, Yuan, Haiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655507/
https://www.ncbi.nlm.nih.gov/pubmed/37466410
http://dx.doi.org/10.1002/mgg3.2238

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655507/
https://www.ncbi.nlm.nih.gov/pubmed/37466410
http://dx.doi.org/10.1002/mgg3.2238

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