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

Internet

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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