SCHINZEL–GIEDION SYNDROME DUE TO MOSAIC SETBP1 PATHOGENIC VARIANT IN AN INFANT WITH MULTISYSTEMIC MALFORMATIONS A CASE REPORT

In this episode of Salud Global One Health, we share a rare and complex clinical case involving 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 underscores the critical role of genomic diagnostics in understanding multisystem…