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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Detalles Bibliográficos
Autores principales: Dhull, Rachita Singh, Jain, Reena, Deepthi, Bobbity, Cheong, Hae II, Saha, Abhijeet, Mehndiratta, Mohit, Basu, Srikanta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Nefrologia 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7860650/
https://www.ncbi.nlm.nih.gov/pubmed/32926064
http://dx.doi.org/10.1590/2175-8239-JBN-2020-0001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7860650/
https://www.ncbi.nlm.nih.gov/pubmed/32926064
http://dx.doi.org/10.1590/2175-8239-JBN-2020-0001

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