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Article

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

Molecular and cellular endocrinology - 25 May 1998

Lim H N, Freestone S H, Romero D, Kwok C, Hughes I A, Hawkins J R

Abstract excerpt

The sexual phenotype is established in three steps: (1) the sex chromosome constitution; (2) the differentiation of the gonads; and (3) the response of the internal and external genitalia to the hormones produced by the differentiated gonads. Errors that occur at any of these stages can result in defective sexual differentiation. Therefore the investigation of patients with abnormalities of testis development...

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Source

Identifiers

PMID: 9722168
DOI: 10.1016/s0303-7207(98)00029-x

Genes

SRY

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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.

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Candidate genes in complete and partial XY sex reversal: mutation analysis of SRY, SRY-related genes and FTZ-F1.PMID 9722168Read ↗

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

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Mutations in SRY and SOX9: testis-determining genes.Semantic proximity Read ↗

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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 ↗

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