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Article

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

Jornal brasileiro de nefrologia - 1 Jan 2000

Dhull Rachita Singh, Jain Reena, Deepthi Bobbity, Cheong Hae Ii, Saha Abhijeet, Mehndiratta Mohit, Basu Srikanta

Abstract excerpt

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 CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial...

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Share to 25-Hydroxyvitamin D3 1-alpha-Hydroxylase
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Identifiers

PMID: 32926064
DOI: 10.1590/2175-8239-JBN-2020-0001
PMCID: PMC7860650

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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