Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome
Patients with SDS exhibit clinical heterogeneity, and this study enriches the <i>SBDS</i> gene mutation spectrum. Genetic testing is valuable for early diagnosis.
Authors
- Y Liu
- Lianfang Du (ORCID: https://orcid.org/0000-0002-2825-6708)
- Meiling Huo
- Chen Liu (ORCID: https://orcid.org/0000-0001-5149-2496)
- Mohnad Abdalla (ORCID: https://orcid.org/0000-0002-1682-5547)
- Fu Li (ORCID: https://orcid.org/0000-0002-4016-3416)
- Jian Li (ORCID: https://orcid.org/0000-0002-3167-4265)
- Qin Jiang (ORCID: https://orcid.org/0000-0003-2635-9655)
- Xiaomei Yang (ORCID: https://orcid.org/0009-0002-1105-789X)
- Kaihui Zhang (ORCID: https://orcid.org/0000-0003-4799-9133)
- Xuxia Wei (ORCID: https://orcid.org/0000-0002-4999-7695)
- R. Wei
Institutions
- Shandong University (CN)
- Beijing Emergency Medical Center (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-06-18
- DOI
- https://doi.org/10.3389/fgene.2025.1603782
- Primary Topic
- Blood disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00