Chinese Family With Knobloch Syndrome Associated With a Novel PAK2 Variant Leading to Reduced Phosphorylation Levels
ABSTRACT Background Biallelic variants of COL18A1 cause Knobloch syndrome (KNO), a rare genetic disorder, characterized by oculopathy and structural defects. Recently, several studies have suggested that novel de novo missense variants in PAK2 may be associated with KNO; however, there are few case...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-04-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.70099 |
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