Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder caused by mutations in genes that encode renal tight junction proteins claudin-16 or claudin-19, which are responsible for magnesium and calcium paracellular reabsorption in the thick...

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Detalles Bibliográficos
Autores principales: Vianna, Júlia Guasti P., Simor, Thiago Gabriel, Senna, Pamella, De Bortoli, Michell Roncete, Costalonga, Everlayny Fiorot, Seguro, Antonio Carlos, Luchi, Weverton Machado
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dustri-Verlag Dr. Karl Feistle 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528384/
https://www.ncbi.nlm.nih.gov/pubmed/31119091
http://dx.doi.org/10.5414/CNCS109595

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