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

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 is caus...

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Detalles Bibliográficos
Autores principales: García‐Castaño, Alejandro, Perdomo‐Ramirez, Ana, Vall‐Palomar, Mònica, Ramos‐Trujillo, Elena, Madariaga, Leire, Ariceta, Gema, Claverie‐Martin, Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667358/
https://www.ncbi.nlm.nih.gov/pubmed/32869508
http://dx.doi.org/10.1002/mgg3.1475

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667358/
https://www.ncbi.nlm.nih.gov/pubmed/32869508
http://dx.doi.org/10.1002/mgg3.1475

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