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

[Variant analysis on steroid 5-reductase type 2 deficiency caused by a novel SRD5A2 mutation].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jul 2020

Chu Guo-Ming, Li Ping-Ping, Chang Wen-Jing, He Rong, Zhao Yan-Yan

Abstract excerpt

This article reported the clinical characteristics and SRD5A2 gene mutation pattern of a child with steroid 5-α reductase type 2 deficiency. The 2-month-old boy showed hypospadias and short penis shortly after birth. DNA was extracted from the peripheral blood of the child and his parents. The endocrine disease-related genes were captured and sequenced by high-throughput sequencing technology, and the family DNA...

Read the complete abstract on PubMed

Topics

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

Share to 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hypospadias

Share to Infant

Share to Membrane Proteins

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 32669180
PMCID: PMC7389620

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Variant analysis on steroid 5-reductase type 2 deficiency caused by a novel SRD5A2 mutation].PMID 32669180Read ↗

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

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

Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.Semantic proximity Read ↗

Clinical and molecular characterization of 5α-reductase type 2 deficiency due to mutations (p.Q6X, p.R246Q) in SRD5A2 gene.Semantic proximity Read ↗

[Karyotyping and analysis of 5α -reductase-2 gene mutation in 25 patients with hypospadias].Semantic proximity Read ↗

Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.Semantic proximity Read ↗

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

Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.Semantic proximity Read ↗

Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency.Semantic proximity Read ↗

Clinical, Hormonal, and Genetic Characteristics of 5α-Reductase Type 2 Deficiency in 103 Chinese Patients.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 ↗

[Mutation analysis of SRD5A2 gene in patients with hypospadias].Semantic proximity Read ↗

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