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

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

Abstract 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 mutatio...

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Bibliographic Details
Main Authors: Rachita Singh Dhull, Reena Jain, Bobbity Deepthi, Hae II Cheong, Abhijeet Saha, Mohit Mehndiratta, Srikanta Basu
Format: Article
Language:English
Published: Sociedade Brasileira de Nefrologia 2020-09-01
Series:Brazilian Journal of Nephrology
Subjects:
Familial Hypophosphatemic Rickets
Children
25-Hydroxyvitamin D3 1-alpha-Hydroxylase
Mutagenesis, Insertional
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494&tlng=pt

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002020000400494&tlng=pt

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