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A Novel Homozygous CYP19A1 Gene Mutation Causing Aromatase Deficiency
Aromatase deficiency is a rare autosomal recessive disorder and its exact prevalence is not known. Aromatase enzyme catalyzes the conversion of androgens to estrogens in gonadal and extra-gonadal tissues. Deficiency of aromatase enzyme can lead to ambiguous genitalia in a female child and maternal v...
Autores principales: | Hathi, Deep, Goswami, Soumik, Sengupta, Nilanjan, Baidya, Arjun |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8916689/ https://www.ncbi.nlm.nih.gov/pubmed/35340461 http://dx.doi.org/10.7759/cureus.22059 |
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