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

• Glavni autori: Meigui Han (Autor), Min Peng (Autor), Ziming Han (Autor), Xiaojuan Zhu (Autor), Qian Huang (Autor), Weiyue Gu (Autor), Yong Guo (Autor)
• Format: Knjiga
• Izdano: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

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...