A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree

A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree

Abstract Background Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic metabolic abnormalities, including hypokalemia, metabolic alkalosis, h...

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Bibliographic Details
Main Authors: Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng, Hong Li
Format: Article
Language:English
Published: BMC 2018-01-01
Series:BMC Medical Genetics
Subjects:
Gitelman syndrome
SLC12A3
Compound heterozygous
Pedigree
Online Access:http://link.springer.com/article/10.1186/s12881-018-0527-7

Internet

http://link.springer.com/article/10.1186/s12881-018-0527-7

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