Whole-genome sequencing identifies HOXD13 variants in syndactyly pedigrees
Our findings demonstrate the utility of WGS in identifying HOXD13 variants and support the genotype-phenotype correlation of polyalanine expansions in limb malformations, providing new insights for molecular diagnosis.
Authors
- J W Zhang
- J M Liu
- Hua-ying Hu
- Yifeng Xu (ORCID: https://orcid.org/0000-0002-0403-1141)
- Tian-Ying Wei
- Ya-ping Tian
- Kai Yang
- Man-li Zhang
Institutions
- Chinese PLA General Hospital (CN)
- Hospital of Hebei Province (CN)
- 302 Military Hospital of China (CN)
- Beijing Hospital (CN)
- First Hospital of Shijiazhuang (CN)
- Beijing Obstetrics and Gynecology Hospital (CN)
- Hebei Science and Technology Department (CN)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-12-24
- DOI
- https://doi.org/10.1186/s40246-025-00870-2
- Primary Topic
- Congenital limb and hand anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00