Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report

Sixty mutations of claudin 16 coding gene have been reported in familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent investigations revealed that a highly conserved glycine...

Source: BMC Nephrology - July 13, 2018 Category: Urology & Nephrology Authors: Jingru Lu, Xiangzhong Zhao, Alessandro Paiardini, Yanhua Lang, Irene Bottillo and Leping Shao Tags: Case report Source Type: research