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

[17 beta-hydroxysteroid dehydrogenase 3 deficiency due to novel compound heterozygous variants of HSD17B3 gene in a sib pair].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2021

Wu Su, Zheng Bixia, Liu Ting, Zhu Ziyang, Gu Wei, Liu Qianqi

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a sib pair featuring 17beta-hydroxysteroid dehydrogenase type 3 deficiency. METHODS: Genomic DNA was extracted from the proband, her sister, and their parents, and was subjected to sequencing analysis with a gene panel for sexual development. Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Both the proband and her sister were...

Read the complete abstract on PubMed

Topics

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

Share to 17-Hydroxysteroid Dehydrogenases
Share to Genetic Testing

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

Share to Genomics

Share to Mutation

Share to Mutation, Missense

Source

Identifiers

PMID: 34365626
DOI: 10.3760/cma.j.cn511374-20200527-00392

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[17 beta-hydroxysteroid dehydrogenase 3 deficiency due to novel compound heterozygous variants of HSD17B3 gene in a sib pair].PMID 34365626Read ↗

Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.Semantic proximity Read ↗

17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate.Semantic proximity Read ↗

The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.Semantic proximity Read ↗

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.Semantic proximity Read ↗

Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.Semantic proximity Read ↗

17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review.Semantic proximity Read ↗

46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case ReportSemantic proximity Read ↗

Rare phenotypic spectrum of 17β-hydroxysteroid dehydrogenase 3 deficiency: case series from infancy to adolescence.Semantic proximity Read ↗

Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).Semantic proximity Read ↗

Novel mutation among two sisters with 17β hydroxysteroid dehydrogenase type 3 deficiency.Semantic proximity Read ↗

Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids.Semantic proximity Read ↗

Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development.Semantic proximity Read ↗

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