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Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A
Mutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype–phenotype correlations ar...
Uloženo v:
| Vydáno v: | J Pediatr Genet |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Georg Thieme Verlag KG
2018
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| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6087480/ https://ncbi.nlm.nih.gov/pubmed/30105118 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1651526 |
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