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 spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.

Journal of pediatric endocrinology & metabolism : JPEM - 23 Feb 2023

Aftab Sommayya, Khan Sabeen Abid, Malik Munir Iqbal, Imran Ahmed, Anjum Muhammad Nadeem, Saeed Anjum, Qureshi Abid Ali, Cheema Huma Arshad

Abstract excerpt

OBJECTIVES: Vitamin D dependent rickets type 1A (VDDR1A) is a rare autosomal recessive condition due to inactivating mutation of CYP27B1. It mimics clinically, biochemically and rediologically to nutritional and hypophosphatemic rickets. In developing countries like Pakistan, VDDR1A is often misdiagnosed as nutritional rickets or hypophosphatemic rickets due lack of free access to 1,25 (OH) 2 D level and genetic...

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 Calcitriol

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Familial Hypophosphatemic Rickets

Share to Infant

Share to Rickets

Share to Vitamin D

Source

Identifiers

PMID: 36524979
DOI: 10.1515/jpem-2022-0550

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.PMID 36524979Read ↗

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

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

Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.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 ↗

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 ↗

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

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

Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in VietnamSemantic 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 ↗

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

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

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