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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Bibliografiset tiedot
Julkaisussa:J Bras Nefrol
Päätekijät: Dhull, Rachita Singh, Jain, Reena, Deepthi, Bobbity, Cheong, Hae II, Saha, Abhijeet, Mehndiratta, Mohit, Basu, Srikanta
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Sociedade Brasileira de Nefrologia 2020
Aiheet:
Case Report
Linkit: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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