hrp0086rfc2.7 | Bone & Mineral Metabolism | ESPE2016
Tran Lea Chantal
, Brehin Anne-Claire
, Richard Nicolas
, Kottler Marie-Laure
Background: Heterozygous GNAS inactivating mutations cause pseudohypoparathyroidism type Ia (PHP-Ia) when maternally inherited and pseudopseudohypoparathyroidism (PPHP)/progressive osseous heteroplasia when paternally inherited. Mutations on the paternal, but not the maternal, GNAS allele are associated with intrauterine growth retardation (IUGR). Moreover, birth weights were lower with paternal GNAS mutations affecting exons 213 (including XL and Gαs) than with exo...