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Article

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

The Turkish journal of pediatrics - 1 Jan 2018

Alparslan Caner, Öncel Elif Perihan, Akbay Sinem, Alaygut Demet, Mutlubaş Fatma, Tatlı Mansur, Konrad Martin, Yavaşcan Önder, Kasap-Demir Belde

Abstract excerpt

Alparslan C, Öncel EP, Akbay S, Alaygut D, Mutlubaş F, Tatlı M, Konrad M, Yavaşcan Ö, Kasap-Demir B. A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings. Turk J Pediatr 2018; 60: 76-80. Familial hypomagnesemic hypercalciuric nephrocalcinosis (FHHNC) (OMIM: 248250) is characterized by hypomagnesemia, hypercalciuria and...

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PMID: 30102483
DOI: 10.24953/turkjped.2018.01.011

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