A severe inactivating PTH/PTHrP signaling disorder type 2 in a patient carrying a novel large deletion of the GNAS gene: a case report and review of the literature

ConclusionsWe report a kindred harboring a largeGNAS deletion. A genotype –phenotype correlation was observed in term of severity of tissue ossifications in the siblings but not in the mother.

Source: Endocrine - January 13, 2020 Category: Endocrinology Source Type: research