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

• Main Authors: Fabio Sippelli (Author), Silvana Briuglia (Author), Chiara Ferraloro (Author), Anna Paola Capra (Author), Emanuele Agolini (Author), Tiziana Abbate (Author), Giorgia Pepe (Author), Tommaso Aversa (Author), Malgorzata Wasniewska (Author), Domenico Corica (Author)
• Format: Book
• Published: BMC, 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 gro...