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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Detalles Bibliográficos
Autores principales: Margabandhu, S., Doshi, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375017/
https://www.ncbi.nlm.nih.gov/pubmed/30814796
http://dx.doi.org/10.4103/ijn.IJN_323_17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375017/
https://www.ncbi.nlm.nih.gov/pubmed/30814796
http://dx.doi.org/10.4103/ijn.IJN_323_17

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