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Article

Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.

European journal of medical genetics - 1 Apr 2024

Morison Lottie D, Van Reyk Olivia, Baker Emma, Ruaud Lyse, Couque Nathalie, Verloes Alain, Amor David J, Morgan Angela T

Abstract excerpt

Pathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of BRPF1-related disorder but have not been systematically characterized. We provide a comprehensive delineation of speech and language abilities in BRPF1-related disorder and expand the phenotype. Speech and language, and health and medical history were...

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Identifiers

PMID: 38346666
DOI: 10.1016/j.ejmg.2024.104923

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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