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

Non-coding variation in disorders of sex development.

Clinical genetics - 1 Feb 2017

Baetens D, Mendonça B B, Verdin H, Cools M, De Baere E

Abstract excerpt

Genetic studies in Disorders of Sex Development (DSD), representing a wide spectrum of developmental or functional conditions of the gonad, have mainly been oriented towards the coding genome. Application of genomic technologies, such as whole-exome sequencing, result in a molecular genetic diagnosis in ∼50% of cases with DSD. Many of the genes mutated in DSD encode transcription factors such as SRY, SOX9, NR5A1,...

Read the complete abstract on PubMed

Topics

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

Share to Disorders of Sex Development
Share to Forkhead Box Protein L2
Share to Gonads

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pathology, Molecular

Share to Regulatory Sequences, Nucleic Acid

Share to Sex-Determining Region Y Protein

Share to SOX9 Transcription Factor

Share to Steroidogenic Factor 1

Source

Identifiers

PMID: 27801941
DOI: 10.1111/cge.12911

Genes

FOXL2
SOX9
SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Non-coding variation in disorders of sex development.PMID 27801941Read ↗

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

A conserved regulatory atlas reveals enhancers critical for mouse and human gonadal developmentSemantic proximity Read ↗

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal DysgenesisSemantic proximity Read ↗

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual DevelopmentSemantic proximity Read ↗

The Role of Copy Number Variants in Disorders of Sex DevelopmentSemantic proximity Read ↗

Review disorders of sex development: The evolving role of genomics in diagnosis and gene discovery.Semantic proximity Read ↗

Oligogenic Origin of Differences of Sex Development in Humans.Semantic proximity Read ↗

Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.Semantic proximity Read ↗

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.Semantic proximity Read ↗

Gene mutations associated with anomalies of human gonad formation.Semantic proximity Read ↗

Monogenic Forms of DSD: An Update.Semantic proximity Read ↗

The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factorsSemantic proximity Read ↗

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