Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome

Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome

Abstract Background Gitelman syndrome (GS) is an autosomal recessive disorder and mild variant of classic Bartter syndrome. The latter is caused by defects in the genes CLCNKB and/or CLCNKA (chloride voltage-gated channel Ka and Kb). Patients with GS usually have loss-of-function mutations in SLC12A...

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Bibliographic Details
Main Authors: Yuanmei Kong, Ke Xu, Ke Yuan, Jianfang Zhu, Weiyue Gu, Li Liang, Chunlin Wang
Format: Article
Language:English
Published: BMC 2019-04-01
Series:BMC Pediatrics
Subjects:
Gitelman syndrome
Digenetic heritance
SLC12A3
CLCNKB
Online Access:http://link.springer.com/article/10.1186/s12887-019-1498-3

Internet

http://link.springer.com/article/10.1186/s12887-019-1498-3

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