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Inherited thrombocytopenia
- ... numbers of white blood cells (neutropenia) and platelets (thrombocytopenia). Neutropenia can lead to frequent infections; thrombocytopenia sometimes causes easy bruising and bleeding. When visualized ...
- ... chromosome 1 is involved in most cases of thrombocytopenia-absent radius (TAR) syndrome. TAR syndrome is characterized ... resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 ...
- ... have a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal ... gene that are passed down within families. These inherited mutations are present throughout a person's life ...
- ... as pneumonia; and a reduced number of platelets (thrombocytopenia), which can lead to abnormal bleeding and bruising. ... mutations, which are genetic changes that are not inherited but occur during an individual's lifetime in ...
- ... the most commonly occurring autoimmune disorders are immune thrombocytopenia, which is an abnormal bleeding disorder caused by ... and genetic factors.In rare cases, CVID is inherited in an autosomal recessive pattern, which means both ...
- ... blood cells called platelets (a disorder known as thrombocytopenia); platelets are needed for normal blood clotting. Some ... changes, which are called somatic variants, are not inherited. UBA1 gene variants that cause VEXAS syndrome result ...
- ... platelets that are needed for normal blood clotting (thrombocytopenia). They may develop intermittent fevers in the absence ... different inheritance patterns. In most cases, it is inherited in an autosomal recessive pattern, which means both ...
- ... result in seizures), a decrease in blood platelets (thrombocytopenia), significant feeding difficulties, gastrointestinal problems, and hearing loss. ... cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a ...
- ... and a reduction in the amount of platelets (thrombocytopenia) can result in easy bruising and abnormal bleeding. ... NCBI Gene: KMT2A CN-AML is not usually inherited but arises from genetic changes in the body' ...
- ... clotting problems due to low numbers of platelets (thrombocytopenia).Other signs and symptoms that may occur in ... only in certain cells. These changes are not inherited.The BRAF gene provides instructions for making a ...