An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.

doi:10.1136/jmg.35.1.17

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Article

An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.

Journal of medical genetics - 1 Jan 1998

Slaney S F, Chalmers I J, Affara N A, Chitty L S

Abstract excerpt

It is now well established that the differentiation of the primitive gonad into the testis during early human embryonic development depends on the presence of the SRY gene. However, the existence of total or partial sex reversal in 46,XX males with genetic mutations not linked to the Y chromosome...

Topics

Adult
Child
DNA-Binding Proteins
Disorders of Sex Development
Female
Genetic Linkage
Genetic Markers
Gonadal Dysgenesis
Humans
Infant, Newborn
Kruppel-Like Transcription Factors
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nuclear Proteins

Pedigree

Sex Differentiation

Sex-Determining Region Y Protein

Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 9475089
DOI: 10.1136/jmg.35.1.17
PMCID: PMC1051181

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9475089-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.PMID 9475089Read ↗

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