Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.

Clinical endocrinology - 1 Sept 2012

Durmaz Erdem, Zou Minjing, Al-Rijjal Roua A, Bircan Iffet, Akçurin Sema, Meyer Brian, Shi Yufei

Abstract excerpt

CONTEXT: Vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700) is a rare autosomal recessive disorder and is caused by mutations in the CYP27B1 gene. OBJECTIVES: We aim to investigate CYP27B1 mutation in seven patients from four separate families and characterize the genotype-phenotype correlation. METHODS: The entire coding region of the CYP27B1 gene was sequenced, and genotype-phenotype correlation among...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 25-Hydroxyvitamin D3 1-alpha-Hydroxylase
Share to Familial Hypophosphatemic Rickets

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Metabolism, Inborn Errors

Share to Mutagenesis, Insertional

Share to Rickets

Share to RNA Splice Sites

Share to Turkey

Source

Identifiers

PMID: 22443290
DOI: 10.1111/j.1365-2265.2012.04394.x

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.PMID 22443290Read ↗

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I.Semantic proximity Read ↗

Siblings with vitamin D-dependent rickets type 1A: Importance of genetic testing and a review of genotype-phenotype correlations.Semantic proximity Read ↗

Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.Semantic proximity Read ↗

A Novel G102E Mutation of CYP27B1 in a Large Family with Vitamin D-Dependent Rickets Type 1Semantic proximity Read ↗

Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1ASemantic proximity Read ↗

The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A.Semantic proximity Read ↗

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

Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.Semantic proximity Read ↗

Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.Semantic proximity Read ↗

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

Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature.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 ↗

⌁Select a neighboring publication to make it the new centre.