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GENATLAS PHENOTYPE

last update : 05-03-2010

Symbol	DBA9
Location	6p21.31
Name	Diamond-Blackfan anemia 9
Corresponding gene	RPS10
Main clinical features	congenital hypoplastic anemia, usually presents early in infancy in 30 to 40 p100 of patients, associated to other congenital anomalies, particularly of the upper limb and craniofacial regions
Genetic determination	autosomal recessive
Prevalence	present in about 2.6 p100 of DBA
Function/system disorder	hematology
Type	disease

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