Ontology highlight
ABSTRACT:
SUBMITTER: Pecci A
PROVIDER: S-EPMC5760853 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Pecci Alessandro A Ragab Iman I Bozzi Valeria V De Rocco Daniela D Barozzi Serena S Giangregorio Tania T Ali Heba H Melazzini Federica F Sallam Mohamed M Alfano Caterina C Pastore Annalisa A Balduini Carlo L CL Savoia Anna A
EMBO molecular medicine 20180101 1
Congenital amegakaryocytic thrombocytopenia (CAMT) is an inherited disorder characterized at birth by thrombocytopenia with reduced megakaryocytes, which evolves into generalized bone marrow aplasia during childhood. Although CAMT is genetically heterogeneous, mutations of <i>MPL</i>, the gene encoding for the receptor of thrombopoietin (THPO), are the only known disease-causing alterations. We identified a family with three children affected with CAMT caused by a homozygous mutation (p.R119C) o ...[more]