A complex phenotype in a girl with a novel heterozygous missense variant of the GNAS gene
A complex phenotype in a girl with a novel heterozygous missense variant of the GNAS gene
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BioMed Central Ltd
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English
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BioMed Central Ltd
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Background GNAS is a complex gene that encodes Gs[alpha], a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gs[alpha]-coding GNAS exons cause hormonal resistance; on the contrary, activating mutations in Gs[alpha] result in constitutive cAMP stimulation. Recent research has described a clinical...
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A complex phenotype in a girl with a novel heterozygous missense variant of the GNAS gene
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TN_cdi_gale_infotracmisc_A699473693
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A699473693
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-022-02252-6
