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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Dades bibliogràfiques
Publicat a:J Bras Nefrol
Autors principals: Dhull, Rachita Singh, Jain, Reena, Deepthi, Bobbity, Cheong, Hae II, Saha, Abhijeet, Mehndiratta, Mohit, Basu, Srikanta
Format: Artigo
Idioma:Inglês
Publicat: Sociedade Brasileira de Nefrologia 2020
Matèries:
Case Report
Accés en línia: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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