Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.

Identification of modifier gene variants overrepresented in familial hypomagnesemia with hypercalciuria and nephrocalcinosis patients with a more aggressive renal phenotype.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an ultra-rare autosomal recessive renal tubular disease with an incidence of <1/1.000.000 individuals, caused by loss-of-function mutations in CLDN16 and CLDN19. Our study includes a unique cohort representing all known F...

Full description

Saved in:
Bibliographic Details
Main Authors: Monica Vall-Palomar, Julieta Torchia, Jordi Morata, Monica Durán, Raul Tonda, Mireia Ferrer, Alex Sánchez, Gerard Cantero-Recasens, Gema Ariceta, Anna Meseguer, Cristina Martinez
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2025-04-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1011568
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1371/journal.pgen.1011568

Similar Items