- Diffuse CNS cortical vein malformations with chromosome 17q microduplication: Possible link to SEC14L1
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Huang S, Dobyns W, Duncan C, Nascene D
- KMID: 2559440
- J Cerebrovasc Endovasc Neurosurg.
- 2024 Sep;26(3):298-303.
- doi: 10.7461/jcen.2023.E2023.07.001
Partial trisomy of the long arm of chromosome 17 (17q) is a rare but clinically recognized syndrome that involves facial dysmorphisms, skeletal abnormalities, and global developmental delay, as well as... -
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