2024
DOI: 10.3390/ijms252010913
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Genotype–Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation

Lorenzo Cipriano,
Rosario Ferrigno,
Immacolata Andolfo
et al.

Abstract: 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 GNAS-related pseudohypoparathyroidism Ia (PHP1a) but a specific focus on this hotspot is still lacking. … Show more

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