Ontology highlight
ABSTRACT:
SUBMITTER: Fabbro S
PROVIDER: S-EPMC3069679 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
Fabbro Shay S Kahr Walter H A WH Hinckley Jesse J Wang Kai K Moseley Jack J Ryu Gi-Yung GY Nixon Brie B White James G JG Bair Thomas T Schutte Brian B Di Paola Jorge J
Blood 20110124 12
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by thrombocytopenia and the absence of α-granules in platelets. Patients with GPS present with mild to moderate bleeding and many develop myelofibrosis. The genetic cause of GPS is unknown. We present 2 Native American families with a total of 5 affected persons and a single affected patient of Pakistani origin in which GPS appears to be inherited in an autosomal recessive manner. Homozygosity mapping using the Affymetr ...[more]