Establishing an algorithm for molecular genetic diagnostics in Chinese children with brachydactyly type E
Through comprehensive evaluation of genotype-phenotype correlations, we propose a diagnostic algorithm for precise molecular diagnosis in Chinese children with BDE.
Authors
- Rongrong Xie (ORCID: https://orcid.org/0000-0003-0305-4752)
- Dandan Zhang (ORCID: https://orcid.org/0000-0003-3424-0224)
- Qing Wang (ORCID: https://orcid.org/0000-0003-1295-1930)
- Ting Chen (ORCID: https://orcid.org/0000-0003-0179-3586)
- Xiaohui Zhang (ORCID: https://orcid.org/0000-0001-7754-6499)
- Hongying Wang (ORCID: https://orcid.org/0000-0001-7122-5600)
- Haitao Lv (ORCID: https://orcid.org/0000-0002-1593-3538)
- Fengyun Wang (ORCID: https://orcid.org/0000-0001-6401-8347)
- Haiying Wu (ORCID: https://orcid.org/0000-0001-8751-4407)
- Xiuli Chen (ORCID: https://orcid.org/0000-0002-2576-4256)
- Xueqian Wang (ORCID: https://orcid.org/0000-0002-3189-361X)
- Bingyu Yang (ORCID: https://orcid.org/0009-0009-5504-4688)
- Shenheng Guan (ORCID: https://orcid.org/0000-0002-4325-0312)
- Tao Feng (ORCID: https://orcid.org/0000-0001-5571-8018)
- Yiqing Gao
- Qisang Fan
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Soochow University (CN)
- Suzhou Institute of Systems Medicine (CN)
- Xuzhou Children Hospital (CN)
- Children's Hospital of Suzhou University (CN)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-06-16
- DOI
- https://doi.org/10.3389/fendo.2025.1571136
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Jiangsu Commission of Health
- Government of Jiangsu Province
- Natural Science Foundation of Jiangsu Province
- NIH Clinical Center