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GENATLAS PHENOTYPE

last update : 03-07-2009

Symbol	DBA4
Location	15q25.2
Name	Diamond-Blackfan anemia 4
Corresponding gene	RPS17
Main clinical features	pure red-cell aplasia with a selective decrease in erythroid precursors normochromic macrocytic anemia with a selective deficiency in red blood cell precursors in otherwise normocellular bone marrow
Genetic determination	autosomal dominant
Function/system disorder
Type	disease

Remark(s)

impaired translation may be the main cause of DBA pathogenesis