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

• Main Authors: Meigui Han (Author), Min Peng (Author), Ziming Han (Author), Xiaojuan Zhu (Author), Qian Huang (Author), Weiyue Gu (Author), Yong Guo (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...