Correlation Engine 2.0
Clear Search sequence regions


  • ACTB (1)
  • ACTG1 (4)
  • actins (2)
  • child (1)
  • humans (1)
  • infant (1)
  • patients (1)
  • protein human (1)
  • Sizes of these terms reflect their relevance to your search.

    Baraitser-Winter cerebrofrontofacial syndrome is an autosomal dominant disease characterized by multiple congenital abnormalities and intellectual disability, which is caused by mutations in either the ACTB or ACTG1 genes. In this report, we described novel phenotypic findings in two Mexican patients with the disorder in whom two novel ACTG1 mutations (c.176A > G, p.Gln59Arg; and c.608C > T, p.Thr203Met) were identified. Copyright © 2020 Elsevier Masson SAS. All rights reserved.

    Citation

    Oscar F Chacon-Camacho, Tania Barragán-Arévalo, Camilo E Villarroel, Mónica Almanza-Monterrubio, Juan Carlos Zenteno. Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome. European journal of medical genetics. 2020 May;63(5):103877

    Expand section icon Mesh Tags

    Expand section icon Substances


    PMID: 32028042

    View Full Text