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Article

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

American journal of human genetics - 1 May 1992

Vilain E, McElreavey K, Jaubert F, Raymond J P, Richaud F, Fellous M

Abstract excerpt

The human Y chromosome encodes a testis-determining factor (TDF) which is responsible for initiating male sex determination. Recently a region of the Y chromosome (SRY) was identified as part of the TDF gene. We have identified a three-generation family (N) in which all XY individuals have a single base-pair substitution resulting in a conservative amino acid change in the conserved domain of the SRY open reading...

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Source

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Identifiers

PMID: 1570829
PMCID: PMC1682588

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.PMID 1570829Read ↗

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.Semantic proximity Read ↗

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

Familial Sex Reversal: A ReviewSemantic proximity Read ↗

Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.Semantic proximity Read ↗

Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis SyndromeSemantic proximity Read ↗

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

A familial mutation in the testis-determining gene SRY shared by both sexes.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 ↗

Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.Semantic proximity Read ↗

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

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotypeSemantic proximity Read ↗

Testis-determining factor and Y-linked sex reversal.Semantic proximity Read ↗

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