title: Inherited thrombocytopenias: an approach to diagnosis and management.
abstract: Inherited thrombocytopenias vary in their presentation, associated features, and molecular etiologies. An accurate diagnosis is important to provide appropriate therapy as well as counseling for the individual and their family members. As the genetic basis of more disorders is understood, it will be possible to diagnose a greater fraction of patients as well as learn more about the process of megakaryopoiesis and platelet production.
authors: Rady Children's Hospital San Diego, University of California San Diego, 3020 Children's Way, Mailcode 5035, San Diego, CA 92123, USA. ageddis@ucsd.edu
authors: A E
authors: AE
authors: Geddis
mesh_terms: D001791:Blood Platelet Disorders / Q000151:congenital* / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D000080984:Congenital Bone Marrow Failure Syndromes; D006801:Humans; D008533:Megakaryocytes / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D011884:Radius / Q000002:abnormalities / Q000503:physiopathology; D013580:Synostosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D013921:Thrombocytopenia / Q000151:congenital / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D034061:Thrombopoiesis; D014457:Ulna / Q000002:abnormalities / Q000503:physiopathology; D038062:Upper Extremity Deformities, Congenital / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D056728:von Willebrand Disease, Type 2 / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy