Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

Abstract Background Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubulopathy characterized by excessive urinary wasting of magnesium and calcium, bilateral nephrocalcinosis, and progressive chronic renal failure in childhood or adolescence. FHHNC...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Alejandro García‐Castaño, Ana Perdomo‐Ramirez, Mònica Vall‐Palomar, Elena Ramos‐Trujillo, Leire Madariaga, Gema Ariceta, Felix Claverie‐Martin
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2020-11-01
Colecção:	Molecular Genetics & Genomic Medicine
Assuntos:	claudin‐16 CLDN16 deletion hypomagnesemia novel mutations QMPSF
Acesso em linha:	https://doi.org/10.1002/mgg3.1475
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!