Clinical case of distal arthrogryposis in combination with epilepsy due to an unbalanced translocation
The clinical case of a patient with congenital contractures of the lower and upper limbs, face, seizures, facial dysmorphias, motor disorders and psychomotor development delay is presented. The proband with Freeman–Sheldon syndrome had no mutations in genes associated with distal arthrogryposis. Chr...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
IRBIS LLC
2022-07-01
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| Series: | Эпилепсия и пароксизмальные состояния |
| Subjects: | |
| Online Access: | https://www.epilepsia.su/jour/article/view/796 |
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