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BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family
BACKGROUND: Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been associated with a previously unrecognized au...
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| Опубликовано в: : | Mol Genet Genomic Med |
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| Главные авторы: | , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
John Wiley and Sons Inc.
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6565580/ https://ncbi.nlm.nih.gov/pubmed/31020800 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.665 |
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