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BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family.

Mol Genet Genomic Med · 2019 · PMC6565580 · PMID 31020800

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Their data demonstrated that microcephaly and ptosis (either unilateral or bilateral) and/or blepharophimosis were significantly more common in those with BRPF1 disruptions, while strabismus and small stature were enriched in this group, however did not reach statistical significance.

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