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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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| Publicat a: | Mol Genet Genomic Med |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2019
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| Matèries: | |
| Accés en línia: | 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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