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

• Main Authors: Yixin Chen (Author), Ziyi Zhang (Author), Xihua Lin (Author), Qianqian Pan (Author), Fenping Zheng (Author), Hong Li (Author)
• Format: Book
• Published: BMC, 2018-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...