A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings

A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings

Familial hypomagnesemic hypercalciuric nephrocalcinosis (FHHNC) (OMIM: 248250) is characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis. FHHNC inevitably progresses to end-stage renal disease in decades. Mutations in CLDN-16 and CLDN-19 genes are associated with disrupted magnesium h...

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Bibliographic Details
Main Authors: Caner Alparslan, Elif Perihan Öncel, Sinem Akbay, Demet Alaygut, Fatma Mutlubaş, Mansur Tatlı, Martin Konrad, Önder Yavaşcan, Belde Kasap-Demir
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2018-02-01
Series:The Turkish Journal of Pediatrics
Subjects:
children
hypercalciuria
hypomagnesemia
nephrocalcinosis
Online Access:https://turkjpediatr.org/article/view/817
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