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Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder. The CYP19A1 gene encodes the aromatase enzyme which catalyses the conversion of androgens to oestrogens. In cases with 46,XX karyotype, mutations in the CYP19A1 gene can lead to disorders of sex development. Clinical finding...

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Detalles Bibliográficos
Autores principales:	Özen, Samim, Atik, Tahir, Korkmaz, Özlem, Onay, Hüseyin, Gökşen, Damla, Özkınay, Ferda, Çoğulu, Özgür, Darcan, Şükran
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7127884/ https://www.ncbi.nlm.nih.gov/pubmed/30968679 http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0198

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