Novel compound heterozygous DOCK6 variants expand the mutational spectrum in prenatal diagnosis of Adams-Oliver syndrome 2
This study expands the mutational spectrum of DOCK6 and underscores the importance of combining prenatal imaging with functional genomics for early diagnosis of AOS2.
Authors
- Xue Zhong (ORCID: https://orcid.org/0000-0003-0813-7506)
- Shiguo Liu (ORCID: https://orcid.org/0000-0001-6794-8611)
- Xuan Zheng (ORCID: https://orcid.org/0000-0002-8433-6198)
- Qianqian Wang
- Kangxi Cai
- Yinglei Xv
Institutions
- Qingdao University (CN)
- Affiliated Hospital of Qingdao University (CN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-06-06
- DOI
- https://doi.org/10.1186/s12920-025-02157-w
- Citations
- 4
- Primary Topic
- Skin and Cellular Biology Research
- Type
- article
- Field-Weighted Citation Impact
- 4.61
Funders
- National Natural Science Foundation of China