DE NOVO GNAS FRAMESHIFT VARIANT PRESENTING WITH EXTENSIVE INTRACRANIAL CALCIFICATIONS AND DENTAL ROOT RESORPTION: EXPANDING THE PHENOTYPIC SPECTRUM OF GNAS-INACTIVATION DISORDERS

In this episode of Salud Global One Health, we present a rare and complex case of a de novo GNAS frameshift variant associated with extensive intracranial calcifications and generalized dental root resorption. This case expands the recognized phenotypic spectrum of GNAS-inactivation disorders and highlights the critical role of genomic diagnostics in multisystem disease. We are proud to share that this work will be presented at the 2026 Annual Meeting of the American College of Medical Genetics and Genomics.