Article
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 May 2020
Snanoudj Sarah, Molin Arnaud, Colson Cindy, Coudray Nadia, Paulien Sylvie, Mittre Hervé, Gérard Marion, Schaefer Elise, Goldenberg Alice, Bacchetta Justine, Odent Sylvie, Naudion Sophie, Demeer Bénédicte, Faivre Laurence, Gruchy Nicolas, Kottler Marie-Laure, Richard Nicolas
Abstract excerpt
Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are two rare autosomal dominant disorders caused by loss-of-function mutations in the imprinted Guanine Nucleotide Binding Protein, Alpha Stimulating Activity (GNAS) gene, coding Gs α. PHP1A is caused by mutations in the maternal allele and results in Albright's hereditary osteodystrophy (AHO) and hormonal resistance, mainly to the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.