Chinese Family With Knobloch Syndrome Associated With a Novel <i>PAK2</i> Variant Leading to Reduced Phosphorylation Levels
The clinical manifestations in this patient may be associated with a novel PAK2 variant, and the atypical presentation of KNO suggests that PAK2-related KNO may have a broader phenotypic spectrum.
Authors
- Xiaofei Ye (ORCID: https://orcid.org/0000-0003-3692-1285)
- Liwei Shen
- Conglei Song
- Xiaocui Wang (ORCID: https://orcid.org/0000-0002-0262-8446)
- Bin Yang (ORCID: https://orcid.org/0009-0000-5182-725X)
Institutions
- Anhui Provincial Children's Hospital (CN)
- Children's Hospital of Fudan University (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1002/mgg3.70099
- Citations
- 1
- Primary Topic
- Cellular transport and secretion
- Type
- article
- Field-Weighted Citation Impact
- 1.15
Funders
- Anhui Medical University