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Baraitser-Winter cerebrofrontofacial syndrome

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Baraitser-Winter cerebrofrontofacial syndrome1

Articles mentioning Baraitser-Winter cerebrofrontofacial syndrome

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ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature

jmedgenet · abstract · 2025-12-25 · 1 matching annotations

93.0%

Baraitser-Winter cerebrofrontofacial syndrome neurodevelopmental disorder

…rebral, renal and ocular abnormalities and dysmorphic features (Baraitser-Winter cerebrofrontofacial syndrome). ACTB encodes beta-actin, a highly conserved protein involved …

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Baraitser-Winter cerebrofrontofacial syndrome

Articles mentioning Baraitser-Winter cerebrofrontofacial syndrome

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature