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Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene
Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliterom...
Autores principales: | Unal, Edip, Yıldırım, Ruken, Taş, Funda Feryal, Demir, Vasfiye, Onay, Hüseyin, Haspolat, Yusuf Kenan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280327/ https://www.ncbi.nlm.nih.gov/pubmed/29553041 http://dx.doi.org/10.4274/jcrpe.0011 |
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