Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the...

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Detalhes bibliográficos
Publicado no:J Bras Nefrol
Main Authors: Dhull, Rachita Singh, Jain, Reena, Deepthi, Bobbity, Cheong, Hae II, Saha, Abhijeet, Mehndiratta, Mohit, Basu, Srikanta
Formato: Artigo
Idioma:Inglês
Publicado em: Sociedade Brasileira de Nefrologia 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7860650/
https://ncbi.nlm.nih.gov/pubmed/32926064
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/2175-8239-JBN-2020-0001
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