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Article

A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population.

Journal of clinical research in pediatric endocrinology - 1 Dec 2016

Özcabı Bahar, Tahmiscioğlu Bucak Feride, Jaferova Sevinç, Oruç Çiğdem, Adrovic Amra, Ceylaner Serdar, Ercan Oya, Evliyaoğlu Olcay

Abstract excerpt

Vitamin D-dependent rickets type 1A (VDDR-1A) (Online Mendelian Inheritance in Man #264700) is a rare, autosomal recessively inherited disorder due to inactivating mutations in CYP27B1. It is characterized by early onset of rickets with hypocalcemia. We aimed to describe the clinical and laboratory findings in a VDDR-1A case and to report a novel homozygote truncating mutation NM_000785.3 c.403C>T (p.Q135*) in...

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Identifiers

PMID: 27353739
DOI: 10.4274/jcrpe.3128
PMCID: PMC5198011

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PTH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population.PMID 27353739Read ↗

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

A Case of Vitamin-D-Dependent Rickets Type 1A with Normal 1,25-Dihydroxyvitamin D Caused by Two Novel Mutations of the CYP27B1 Gene.Semantic proximity Read ↗

Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report.Semantic proximity Read ↗

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Novel Compound Nonsense Variant in the CYP27B1 Cause an Atypical Form of Vitamin D-Dependent Rickets Type 1A: Case Report in Two Siblings in a Mexican FamilySemantic proximity Read ↗

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?Semantic proximity Read ↗

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