Sarah Cole Neelam Giri Blanche P Alter D Matthew Gianferante
10.3389/fgene.2022.914141
Front Genet
2022 Jul 18;13:914141.
dba genotype inherited bone marrow failure syndrome phenotype ribosomopathy
CC BY
https://pubmed.ncbi.nlm.nih.gov/35923690/
Case Reports
PMC9340065
35923690
Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19
2022