Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis
Abstract 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 d...
| Autori principali: | , , , , , , |
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| Natura: | Articolo |
| Lingua: | English |
| Pubblicazione: |
Wiley
2023-11-01
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| Serie: | Molecular Genetics & Genomic Medicine |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1002/mgg3.2238 |