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…