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GENATLAS PHENOTYPE

last update : 23-03-2020

Symbol	THC6
Location	20q11.23
Name	thrombocytopenia 6
Corresponding gene	SRC
Main clinical features	characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis also bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis
Genetic determination	autosomal dominant
Function/system disorder	hematology
	osteo-articular
Type	disease

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