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Article

Gonad development in Drash and Frasier syndromes depends on WT1 mutations.

Arkhiv patologii - 1 Jan 2000

Jaubert Francis, Vasiliu Vorel, Patey-Mariaud de Serre Natacha, Auber Frédéric, Jeanpierre Cecile, Gubler Marie-Claire, Nihoul-Fékété Claire, Fellous Marc

Abstract excerpt

The study of the gonads of 8 cases of Drash syndrome (6 ambiguous males, 2 females) and of 2 Frasier syndrome shows that WT1 mutations gives a dysgenetic testis which is the cause of the genital ambiguity observed at birth. By contrast the same mutations have no effect on ovary development giving normal females. However intron mutations in KTS with isoforms imbalance of WT1 proteins cause streak gonads with a...

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PMID: 15357247

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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