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Article

A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report.

BMC research notes - 5 Nov 2014

Babiker Amir M I, Al Gadi Iman, Al-Jurayyan Nasir A M, Al Nemri Abdulrahman M H, Al Haboob Ali Abdu N, Al Boukai Ahmed Amer, Al Zahrani Ali, Habib Hanan Ahmed

Abstract excerpt

BACKGROUND: Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets type 2 or also known as Vitamin D resistant rickets and 25 hydroxylase deficiency rickets. Vitamin D dependent rickets type 1 is inherited in an autosomal...

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Identifiers

PMID: 25371233
DOI: 10.1186/1756-0500-7-783
PMCID: PMC4232664

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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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