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

[Analysis of a child with 46,XY Disorder of sex development due to a novel variant of NR5A1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2024

Liu Ailing, Wu Mingli, Li Ping, Peng Haiying, Zhou Yanyan, Wang Zengyong, Li Lin

Abstract excerpt

OBJECTIVE: To analyze the clinical features and genetic basis of a child with Disorder of sex development (DSD). METHODS: A child who was admitted to the Linyi People's Hospital for primary amenorrhoea on July 29, 2019 was selected as the study subject. Clinical data of the child was collected. Chromosomal karyotyping and quantitative real-time PCR were used to detect Y chromosome microdeletions and other...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Amenorrhea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Base Sequence

Share to Chromosome Deletion

Share to Disorder of Sex Development, 46,XY

Share to Mutation

Share to Steroidogenic Factor 1

Source

Identifiers

PMID: 38311567
DOI: 10.3760/cma.j.cn511374-20221210-00857

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

[Analysis of a child with 46,XY Disorder of sex development due to a novel variant of NR5A1 gene].PMID 38311567Read ↗

[Genetic analysis of 46,XY disorders of sex development in children caused by a new NR5A1 gene variant].Semantic proximity Read ↗

[Phenotypic and molecular characterizations of 46,XY disorders of sex development due to variants of NR5A1 gene].Semantic proximity Read ↗

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 VariantSemantic proximity Read ↗

[Clinical and genetic features of pedigrees with NR5A1 related disorders of sex development].Semantic proximity Read ↗

Sex Reversal in a 47,XXY Patient due to a Novel Mutation of NR5A1 Gene: A Case ReportSemantic proximity Read ↗

NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex development.Semantic proximity Read ↗

The genotype-phenotype correlation of NR5A1 variants in 46,XY individuals: a study protocolSemantic proximity Read ↗

Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.Semantic proximity Read ↗

Recent findings on the genetics of disorders of sex development.Semantic proximity Read ↗

Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical FeaturesSemantic proximity Read ↗

Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.Semantic proximity Read ↗

NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.Semantic proximity Read ↗

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