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

An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.

Nagoya journal of medical science - 1 May 2023

Ha Thi Minh Thi, Le Phan Tuong Quynh, Le Thanh Nha Uyen, Hoang Thi Thuy Yen

Abstract excerpt

We report a Vietnamese family with complete androgen insensitivity syndrome that included several phenotypic females who have a 46,XY karyotype with an extremely rare mutation of the androgen receptor gene. The proband was a 27-year-old phenotypic adult female referred to our department for karyotyping due to primary amenorrhea. Ultrasound examination revealed a small uterus. Chromosomal analysis showed a 46,XY...

Read the complete abstract on PubMed

Topics

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

Share to Amenorrhea
Share to Androgen-Insensitivity Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Karyotype

Share to Mutation, Missense

Share to Receptors, Androgen

Share to Sex-Determining Region Y Protein

Share to Southeast Asian People

Source

Open in PubMed Open full text

Identifiers

PMID: 37346838
DOI: 10.18999/nagjms.85.2.362
PMCID: PMC10281845

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.PMID 37346838Read ↗

Case Report: a Novel Nonsense Mutation in the Androgen Receptor Gene Causing the Complete Androgen Insensitivity Syndrome.Semantic proximity Read ↗

Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome.Semantic proximity Read ↗

A novel mutation of the androgen receptor gene in familial complete androgen insensitivity syndrome.Semantic proximity Read ↗

Novel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome.Semantic proximity Read ↗

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty.Semantic proximity Read ↗

Complete androgen insensitivity syndrome caused by a novel mutation in the androgen receptor gene and its mechanism.Semantic proximity Read ↗

[A case of complete androgen insensitivity syndrome with special family history and its genetic analysis].Semantic proximity Read ↗

Clinical and genetic characteristics of patients with complete androgen insensitivity syndrome: an experience from a tertiary care centre of Kashmir Valley.Semantic proximity Read ↗

Clinical, cytogenetic and molecular analysis of androgen insensitivity syndromes from south Indian cohort and detection and in-silico characterization of androgen receptor gene mutations.Semantic proximity Read ↗

Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China.Semantic proximity Read ↗

Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China.Semantic proximity Read ↗

Whole Exome Sequencing Identifies a c.C2566T Mutation in the Androgen Receptor in a Chinese Family.Semantic proximity Read ↗

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