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Article

Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b.

Endocrine - 1 Jun 2021

Ozden Ayse, Doneray Hakan, Turkyilmaz Ayberk

Abstract excerpt

PURPOSE: Vitamin D-dependent rickets type 1b (VDDR1b) is a very rare autosomal recessive disorder caused by mutations in CYP2R1 that produces 25-hydroxylase. To date only five mutations in CYP2R1 have been identified. This study has reported the genetic results and the clinical characteristics of a family with VDDR1b and compared this family to the other families with VDDR1b in literature. METHODS: After two...

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Share to 25-Hydroxyvitamin D3 1-alpha-Hydroxylase
Share to Cholestanetriol 26-Monooxygenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33715104
DOI: 10.1007/s12020-021-02670-9

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