Deletion as novel variants in VPS13B gene in Cohen syndrome: Case series
Cohen syndrome (OMIM No. # 216550) is a rare autosomal recessive disorder caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. Clinical manifestations include hypermobile joints, microcephaly, intellectual disabilities, craniofacial and limb...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
De Gruyter
2023-09-01
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| Series: | Translational Neuroscience |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/tnsci-2022-0304 |