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Familial Hypomagnesemia, Hypercalciuria and Nephrocalcinosis with Novel Mutation

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder that is caused by mutation in genes coding for tight junction proteins claudin-16 and claudin-19. It is characterized by renal wasting of magnesium and calcium associated with the developm...

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Detalhes bibliográficos
Publicado no:Indian J Nephrol
Main Authors: Margabandhu, S., Doshi, M.
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6375017/
https://ncbi.nlm.nih.gov/pubmed/30814796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijn.IJN_323_17
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