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Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency
BACKGROUND: Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants experien...
Autores principales: | Bizzarri, Carla, Pisaneschi, Elisa, Mucciolo, Mafalda, Pedicelli, Stefania, Galeazzi, Daniela, Novelli, Antonio, Cappa, Marco |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480121/ https://www.ncbi.nlm.nih.gov/pubmed/28637490 http://dx.doi.org/10.1186/s13052-017-0371-y |
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