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A novel heterozygous mutation in CYP19A1 Gene c.456_462del p.(Ser153Profs*24) in a girl with aromatase deficiency
A novel heterozygous mutation in CYP19A1 Gene c.456_462del p.(Ser153Profs*24) in a girl with aromatase deficiency
2021
Inácio Isabel
Simões Mafalda
Martins Vânia Leitão
Fernanda Geraldes
Rita Cardoso
Joana Serra Caetano
Isabel Dinis
Alice Mirante
Keywords:
Internal medicine
Gene
Endocrinology
Girl
Aromatase deficiency
Biology
heterozygous mutation
Correction
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