Diagnosis and treatment of Diamond-Blackfan anemia and Pierre-Robin sequence caused by a novel mutation of RPS28 gene
It is crucial to perform a genetic evaluation for syndromic bone marrow failure with congenital anomalies. A heterozygous mutation in the RPS28 gene (c.2T > C, p.Met1?) is a novel pathogenic mutation associated with DBA. HSCT is an effective treatment for hematological abnormalities in DBA.
Authors
- Liping Que
- Shaofen Lin (ORCID: https://orcid.org/0009-0002-0974-9205)
- Lele Hou (ORCID: https://orcid.org/0000-0003-0862-4785)
- Xinyu Li (ORCID: https://orcid.org/0000-0003-3433-3009)
- Xiaojuan Li (ORCID: https://orcid.org/0000-0002-9955-2467)
- Hong-Gui Xu (ORCID: https://orcid.org/0009-0007-3249-0701)
- Ke Huang (ORCID: https://orcid.org/0000-0003-1854-7840)
- Jianpei Fang
Institutions
- Sun Yat-sen University (CN)
- Sun Yat-sen Memorial Hospital (CN)
Publication Details
- Journal
- Hematology
- Published
- 2025-03-26
- DOI
- https://doi.org/10.1080/16078454.2025.2481688
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00