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Kleefstra syndrome and epilepsy
Kleefstra syndrome is a rare autosomal dominant genetic disorder caused by haploinsufficiency of the EHMT1 (Euchromatic Histone MethylTransferase 1). Patients with Kleefstra syndrome have following most common symptoms: moderate or severe intellectual deficiency, absence of speech, significant diffu...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Russo |
| Publicado em: |
ABV-press
2020-05-01
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| Colecção: | Russkij Žurnal Detskoj Nevrologii |
| Assuntos: | |
| Acesso em linha: | https://rjdn.abvpress.ru/jour/article/view/316 |
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