Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort
We comprehensively described the clinical and genetic data of a Chinese NF1 cohort and emphasized the necessity of further functional analysis on splicing variants. Neurofibromas and bone lesions are age-dependent disease complications that exhibit progressive tendencies with increasing age in patients with NF1.
Authors
- Shuyuan Li (ORCID: https://orcid.org/0000-0002-1105-5571)
- Yiyao Chen (ORCID: https://orcid.org/0000-0003-4319-9403)
- Yan Kang Xu (ORCID: https://orcid.org/0000-0002-8632-4270)
- Hongjun Fei (ORCID: https://orcid.org/0000-0002-7028-5457)
- Xu Han (ORCID: https://orcid.org/0000-0002-0238-543X)
- Ming Li (ORCID: https://orcid.org/0000-0003-3053-2756)
- Jian Wang (ORCID: https://orcid.org/0000-0002-4316-932X)
- Niu Li (ORCID: https://orcid.org/0000-0002-9583-3173)
- Chunxin Chang
- Yanlin Wang (ORCID: https://orcid.org/0000-0003-1600-966X)
Institutions
- Shanghai International Studies University (CN)
- Shanghai Medical College of Fudan University (CN)
- Shanghai Jiao Tong University (CN)
- International Peace Maternity & Child Health Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-05-23
- DOI
- https://doi.org/10.1186/s13023-025-03807-z
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Science and Technology Commission of Shanghai Municipality