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

Molecular analysis of 5alpha-reductase type 2 gene in eight unrelated egyptian children with suspected 5alpha-reductase deficiency: prevalence of the G34R mutation.

Clinical endocrinology - 1 May 2003

Mazen Inas, Gad Yehia Z, Hafez Mona, Sultan Charles, Lumbroso Serge

Abstract excerpt

OBJECTIVE: Analysis of the 5alpha-reductase type 2 (SRD5A2) gene in Egyptian patients with suspected 5alpha-reductase (5alphaR) deficiency. PATIENTS AND METHODS: Eight unrelated patients, originating from different geographical areas of Egypt, were referred to the Department of Pediatrics. Six prepubertal and two postpubertal patients presented with ambiguous genitalia. Four were being reared as females while the...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Dihydrotestosterone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disorders of Sex Development

Share to Homozygote

Share to Infant

Share to Oxidoreductases

Share to Puberty

Share to Testosterone

Source

Identifiers

PMID: 12699446
DOI: 10.1046/j.1365-2265.2003.01763.x

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

Molecular analysis of 5alpha-reductase type 2 gene in eight unrelated egyptian children with suspected 5alpha-reductase deficiency: prevalence of the G34R mutation.PMID 12699446Read ↗

A novel mutation of the 5alpha-reductase type 2 gene in two unrelated Egyptian children with ambiguous genitalia.Semantic proximity Read ↗

5-Alpha Reductase Deficiency - An Uncommon Disorder of Sexual Development: A Case Study of Four Turkish Patients within a Family.Semantic proximity Read ↗

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.Semantic proximity Read ↗

A new mutation of 5-alpha-reductase type 2 (A62E) in a large Egyptian kindred.Semantic proximity Read ↗

Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency.Semantic proximity Read ↗

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.Semantic proximity Read ↗

The Molecular Basis of 5α-Reductase Type 2 Deficiency.Semantic proximity Read ↗

The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.Semantic proximity Read ↗

5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.Semantic proximity Read ↗

Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations.Semantic proximity Read ↗

[Identification of a novel variant of SRD5A2 gene in a child featuring steroid 5α-reductase type 2 deficiency].Semantic proximity Read ↗

Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.Semantic proximity Read ↗

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