PHELAN–MCDERMID SYNDROM (del 22q13 AND r(22)): LITERATURE REVIEW AND 2 CASE REPORTS
Phelan–McDermid syndrome (PMS) is a microdeletion syndrome associated with the loss of terminal segments in chromosome 22, sometimes with development of the ring chromosome 22. Clinical manifestations of PMS include epilepsy and mental disorders (autism, mental deficiency, lack of expressive speech,...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2017-02-01
|
| Series: | Русский журнал детской неврологии |
| Subjects: | |
| Online Access: | https://rjdn.abvpress.ru/jour/article/view/183 |