Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

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 (...

Source: BMC Pediatrics - April 25, 2024 Category: Pediatrics Authors: Fabio Sippelli, Silvana Briuglia, Chiara Ferraloro, Anna Paola Capra, Emanuele Agolini, Tiziana Abbate, Giorgia Pepe, Tommaso Aversa, Malgorzata Wasniewska and Domenico Corica Tags: Case Report Source Type: research