A novel heterozygous mutation in CYP19A1 Gene c.456_462del p.(Ser153Profs*24) in a girl with aromatase deficiency

Autor:	Alice Mirante, Simões Mafalda, Inácio Isabel, Joana Serra-Caetano, Fernanda Geraldes, Isabel Dinis, Martins Vânia Leitão, Rita Cardoso
Rok vydání:	2021
Předmět:	medicine.medical_specialty Endocrinology Internal medicine media_common.quotation_subject medicine Girl Biology Aromatase deficiency medicine.disease Gene media_common Heterozygous mutation
Zdroj:	Endocrine Abstracts.
ISSN:	1479-6848
DOI:	10.1530/endoabs.73.aep577
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::090fabc94c3a6feded76d13b216d4673 https://doi.org/10.1530/endoabs.73.aep577 Zobrazit plný text záznamu