A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gen...
A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
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Publisher
England: BioMed Central
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Language
English
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Publisher
England: BioMed Central
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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 research has described a clinical condition characterized by bo...
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Full title
A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
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TN_cdi_doaj_primary_oai_doaj_org_article_a95747950f024141a285905c723866ff
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a95747950f024141a285905c723866ff
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-022-02252-6
