Diamond-Blackfan syndrome (congenital erythroid hypoplasia)

Congenital erythroid hypoplasia. Most cases sporadic, some dominant or recessive forms. Significant linkage to chromosome 19q13 in both dominant & recessive forms.

General

genetic disease of the blood/bone marrow pure red cell aplasia; erythrocyte aplasia

References

Gustavsson et al. Nature Genetics 16:368-71 1997