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Glu331 del mutation in CYP17A1 gene causes Atypical Congenital Adrenal Hyperplasia

The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female

Giulia LanzollaDepartment Experimental Medicine, Section of Physiopathology, Food Science and Endocrinology, Sapienza University of Rome, Rome, Italy;

Giuseppe VancieriDivision of Endocrinology, Department of System Medicine, Section of Reproductive Endocrinology, Tor Vergata University of Rome, Fatebenefratelli Hospital San Giovanni Calibita, Rome, Italy;

Silvia LanciottiGenetics Section, Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy;

Federica SangiuoloGenetics Section, Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy;

Elisa MenegattiDepartment of Clinical and Biological Sciences, University of Turin, Turin, Italy;

Luca FedericiDepartment of Medical, Oral and Biotechnological Sciences, University of Chieti, Chieti, Italy; ;Centre for Ageing and Translational Sciences (CeSI-MeT), Chieti, Italy;

Costanzo MorettiDivision of Endocrinology, Department of System Medicine, Section of Reproductive Endocrinology, Tor Vergata University of Rome, Fatebenefratelli Hospital San Giovanni Calibita, Rome, Italy;

Francesco BrancatiDepartment of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy; ;Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IDI) IRCCS, Rome, ItalyCorrespondence[email protected]

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The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female

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The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female

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