Intrafamilial variability in Diamond-Blackfan anemia with a novel canonical splice-site variant in the <i>RPL11</i> gene
This report expands our understanding of the intrafamilial variability of DBA. It also highlights the importance of massively parallel sequencing in pediatric patients with anemia.
Authors
- Keon Hee Yoo (ORCID: https://orcid.org/0000-0002-5980-7912)
- Han Jo Kim (ORCID: https://orcid.org/0000-0001-7880-690X)
- Boram Kim (ORCID: https://orcid.org/0000-0001-5695-8902)
- Hyun‐Young Kim (ORCID: https://orcid.org/0000-0003-0553-7096)
- Sung‐Sick Woo
Institutions
- Samsung Medical Center (KR)
- Sungkyunkwan University (KR)
Publication Details
- Journal
- Laboratory Medicine
- Published
- 2025-07-04
- DOI
- https://doi.org/10.1093/labmed/lmaf040
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00