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Article

A novel compound mutation of CYP27B1 in a Chinese family with vitamin D-dependent rickets type 1A.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2014

Hu Wei-Wei, Ke Yao-Hua, He Jin-Wei, Fu Wen-Zhen, Wang Chun, Zhang Hao, Yue Hua, Gu Jie-Mei, Zhang Zhen-Lin

Abstract excerpt

OBJECTIVES: Mutations in the CYP27B1 gene, which encodes vitamin D 1α-hydroxylase, are the genetic basis of vitamin D-dependent rickets type 1A (VDDR1A, MIM 264700). The aim of this study was to investigate a novel CYP27B1 mutation and its clinical manifestations. METHODS: VDDR1A was diagnosed based on clinical presentation, a physical examination, bone characteristics on an X-ray, and laboratory results. A...

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PMID: 24197768
DOI: 10.1515/jpem-2013-0183

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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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