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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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Detaylı Bibliyografya
Asıl Yazarlar:	Meigui Han (Yazar), Min Peng (Yazar), Ziming Han (Yazar), Xiaojuan Zhu (Yazar), Qian Huang (Yazar), Weiyue Gu (Yazar), Yong Guo (Yazar)
Materyal Türü:	Kitap
Baskı/Yayın Bilgisi:	Frontiers Media S.A., 2022-03-01T00:00:00Z.
Konular:	article
Online Erişim:	Connect to this object online.
Etiketler:	Etiketle Etiket eklenmemiş, İlk siz ekleyin!

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