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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...
Gorde:
| Egile Nagusiak: | , , , |
|---|---|
| Formatua: | Artigo |
| Hizkuntza: | Russo |
| Argitaratua: |
ABV-press
2020-05-01
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| Saila: | Russkij Žurnal Detskoj Nevrologii |
| Gaiak: | |
| Sarrera elektronikoa: | https://rjdn.abvpress.ru/jour/article/view/316 |
| Etiketak: |
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