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KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood
BACKGROUND: KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. The epilepsy phenotypic spectrum in KdVS is broad, but most individuals have...
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| Udgivet i: | PLoS One |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Public Library of Science
2018
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5774806/ https://ncbi.nlm.nih.gov/pubmed/29352316 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0191546 |
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