BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family
Abstract 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 unrecog...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2019-06-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.665 |