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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( WT1 ) geneProceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Journal articles
pasteur-02872463v1
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Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous GenitaliaSexual Development, 2017, 11 (5-6), pp.275-279. ⟨10.1159/000485278⟩
Journal articles
pasteur-03521848v1
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Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex developmentAmerican Journal of Medical Genetics Part A, 2021, 185 (6), pp.1666-1677. ⟨10.1002/ajmg.a.62129⟩
Journal articles
pasteur-03263623v1
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A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal DysgenesisSexual Development, 2023, 16 (4), pp.261-265. ⟨10.1159/000520366⟩
Journal articles
hal-04150451v1
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