A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome)
PACS1 neurodevelopmental disorder (Schuurs-Hoeijmakers syndrome; MIM #615009) is a rare autosomal dominant genetic syndrome characterized by developmental delay, intellectual disability, dysmorphic features, and rare seizures. The article describes a clinical case of PACS1 syndrome in a female patie...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
IRBIS LLC
2024-07-01
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| Series: | Эпилепсия и пароксизмальные состояния |
| Subjects: | |
| Online Access: | https://www.epilepsia.su/jour/article/view/1047 |
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