Macrotrombocitopenia, dismorfismi facciali e ritardo dello sviluppo psicomotorio: il gene CDC42

Abstract

Cell Division Control 42 (CDC42) gene encodes for a small GTPase with a fundamental role in controlling intracellular signaling pathway. Gene mutations can cause different phenotypic manifestations, which reflect the variety of the role of this mediator, namely growth failure, facial dysmorphism, intellectual disability, cardiac and nervous system malformations, immunologic and hematologic alterations. The paper describes the case of a 9-year-old female patient presenting with a CDC42 mutation with complex clinical features.