Blackfan-Diamond anemia
MIM.205900
congenital hypoblastic anemia of Blackfan-Diamond, congenital chronic aregenerative anemia
Etiology
Locus DBA1 on Ch.19: mutations in the gene encoding ribosomal protein S19 (RPS19) (MIM.603474) on chromosome 19
Locus DBA2 on Ch.8: gene unknown (MIM.606129)
MIM.205900
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