Diamond-Blackfan Anemia 1 [Supplementary Concept]
A type of Diamond-Blackfan Anemia. Patients may also have craniofacial, skeletal, and cardiovascular abnormalities. It is caused by mutations in the ribosomal protein S19 (RPS19) gene. OMIM: 105650
Date introduced: November 5, 2012
MeSH Unique ID: C567302
Heading Mapped to: