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Article

Absence of mutation in coding regions of CYP2R1 gene in apparent autosomal dominant vitamin D 25-hydroxylase deficiency rickets.

The Journal of clinical endocrinology and metabolism - 1 May 2012

Tosson Hanan, Rose Susan R

Abstract excerpt

CONTEXT: This is a case report of a proband and his family presenting with apparent autosomal dominant 25-hydroxylase enzyme deficiency and bone disease. OBJECTIVE: The aim of the study was to present an alternative pattern of transmission of 25-hydroxylase enzyme deficiency other than autosomal recessive. DESIGN: We diagnosed our patient with 25-hydroxylase enzyme deficiency, treated him, and examined his DNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22419701
DOI: 10.1210/jc.2011-2716

Genes

PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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