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A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene

BACKGROUND: GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, activating mutations in Gsα result in constitutive cAMP stimulation. Recent r...

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Detalles Bibliográficos
Autores principales:	Paolo, Cavarzere, Andrea, Gastaldi, Elli, Francesca Marta, Rossella, Gaudino, Erika, Peverelli, Milena, Brugnara, Thiele, Susanne, Francesca, Granata, Giovanna, Mantovani, Franco, Antoniazzi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8867619/ https://www.ncbi.nlm.nih.gov/pubmed/35197096 http://dx.doi.org/10.1186/s13023-022-02252-6

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