Diamond-Blackfan syndrome (congenital erythroid hypoplasia)

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Introduction

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

More general terms

References

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

Patient information

Diamond-Blackfan syndrome patient information

Database