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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-06-2009
Symbol DBA8
Location 2p25
Name Diamond-Blackfan anemia 8
Corresponding gene RPS7
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
Function/system disorder hematology
Type disease