Case Report: Novel CA12 Homozygous Variant Causing Isolated Hyperchloridrosis in a Chinese Child With Hyponatremia

Isolated hyperchloridrosis (HYCHL; OMIM 143860) is a rare autosomal recessive disorder caused by biallelic mutations in the carbonic anhydrase 12 (CA12; OMIM 603263) gene, which is characterized by abnormally high levels of salt in sweat that can lead to dehydration associated with low levels of sod...

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Detalles Bibliográficos
Autores principales: Han, Meigui, Peng, Min, Han, Ziming, Zhu, Xiaojuan, Huang, Qian, Gu, Weiyue, Guo, Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8964059/
https://www.ncbi.nlm.nih.gov/pubmed/35359895
http://dx.doi.org/10.3389/fped.2022.820707

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8964059/
https://www.ncbi.nlm.nih.gov/pubmed/35359895
http://dx.doi.org/10.3389/fped.2022.820707

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