Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): Report of three cases with a novel mutation in CLDN19 gene

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): Report of three cases with a novel mutation in CLDN19 gene

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is caused by mutation in the genes coding for tight junction proteins Claudin-16 and Claudin-19. Affected individuals usually develop nephrocalcinosis and progressive renal failure; s...

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Bibliographic Details
Main Authors: Amar Al-Shibli, Martin Konrad, Waleed Altay, Omar Al Masri, Lihad Al-Gazali, Ibrahim Al Attrach
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2013-01-01
Series:Saudi Journal of Kidney Diseases and Transplantation
Online Access:http://www.sjkdt.org/article.asp?issn=1319-2442;year=2013;volume=24;issue=2;spage=338;epage=344;aulast=Al-Shibli

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http://www.sjkdt.org/article.asp?issn=1319-2442;year=2013;volume=24;issue=2;spage=338;epage=344;aulast=Al-Shibli

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