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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Bras Nefrol
Egile Nagusiak: Dhull, Rachita Singh, Jain, Reena, Deepthi, Bobbity, Cheong, Hae II, Saha, Abhijeet, Mehndiratta, Mohit, Basu, Srikanta
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Sociedade Brasileira de Nefrologia 2020
Gaiak:
Case Report
Sarrera elektronikoa: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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