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Article

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.

American journal of human genetics - 1 Nov 1992

Hawkins J R, Taylor A, Goodfellow P N, Migeon C J, Smith K D, Berkovitz G D

Abstract excerpt

The Y chromosome gene SRY (sex-determining region, Y gene) has been equated with the mammalian testis-determining factor. The SRY gene of five subjects with 46,XY complete gonadal dysgenesis (46,XY karyotype, completely female external genitalia, normal Müllerian ducts, and streak gonads) was evaluated for possible mutations in the coding region by using both single-strand conformation polymorphism (SSCP) assay...

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Source

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Identifiers

PMID: 1415266
PMCID: PMC1682856

Genes

SRY

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.PMID 1415266Read ↗

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.Semantic proximity Read ↗

Analysis of the testis-determining gene SRY in patients with XY gonadal dysgenesis.Semantic proximity Read ↗

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.Semantic proximity Read ↗

Genetic evidence equating SRY and the testis-determining factor.Semantic proximity Read ↗

Mutational analysis of SRY in XY females.Semantic proximity Read ↗

Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.Semantic proximity Read ↗

The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome).Semantic proximity Read ↗

Candidate genes in complete and partial XY sex reversal: mutation analysis of SRY, SRY-related genes and FTZ-F1.Semantic proximity Read ↗

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.Semantic proximity Read ↗

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.Semantic proximity Read ↗

Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formationSemantic proximity Read ↗

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.Semantic proximity Read ↗

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