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Article

Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation.

International journal of molecular sciences - 10 Oct 2024

Cipriano Lorenzo, Ferrigno Rosario, Andolfo Immacolata, Russo Roberta, Cioffi Daniela, Savanelli Maria Cristina, Pellino Valeria, Klain Antonella, Iolascon Achille, Piscopo Carmelo

Abstract excerpt

Defects of the GNAS gene have been mainly associated with pseudohypoparathyroidism Ia. To date, pathogenic missense, frameshift, non-sense and splicing variants have been described in all the 13 exons of the GNAS gene. Of them, a specific mutation, namely the 4 bp deletion c.565_568delGACT, is currently considered a mutation hotspot. Recent articles performed genotype-phenotype correlations in patients with...

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PMID: 39456695
DOI: 10.3390/ijms252010913
PMCID: PMC11507458

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