[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].
When the clinical phenotype of a genetic disease is complex and cannot be fully explained with a single genetic variant, multiple pathogenic variants should be considered, and this may lead to the diagnosis of co-morbid genetic diseases. To adopt or supplement corresponding genetic testing in time and re-analyze the genetic data may facilitate accurate diagnosis of co-morbid genetic diseases.
Authors
- Yan Dong (ORCID: https://orcid.org/0000-0001-6171-1891)
- Tianming Jia
- Ruirui Liang (ORCID: https://orcid.org/0000-0002-0663-507X)
- Ling Gan (ORCID: https://orcid.org/0000-0001-8228-2782)
- Lijun Wang (ORCID: https://orcid.org/0000-0001-5773-3422)
- Yi Li (ORCID: https://orcid.org/0000-0003-1720-2760)
- Shichao Zhao (ORCID: https://orcid.org/0000-0002-0282-6071)
- Yueqin Li
- Mengchun Li
Institutions
- Third Affiliated Hospital of Zhengzhou University (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-10-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20240809-00433
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82