Article
Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.
BMC pediatrics - 25 Apr 2024
Sippelli Fabio, Briuglia Silvana, Ferraloro Chiara, Capra Anna Paola, Agolini Emanuele, Abbate Tiziana, Pepe Giorgia, Aversa Tommaso, Wasniewska Malgorzata, Corica Domenico
Abstract excerpt
BACKGROUND: Pseudohypoparathyroidism (PHP) is caused by loss-of-function mutations at the GNAS gene (as in the PHP type 1A; PHP1A), de novo or inherited at heterozygous state, or by epigenetic alterations at the GNAS locus (as in the PHP1B). The condition of PHP refers to a heterogeneous group of disorders that share common clinical and biological features of PTH resistance. Manifestations related to resistance...
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