Associated Papers
Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB.
Tsujimoto T et al.
Human Molecular Genetics, 2024
Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
Hampshire K et al.
American Journal of Medical Genetics. Part A, 2020
Further delineation of putative ACTB loss-of-function variants: A 4-patient series.
Baumann M et al.
Human Mutation, 2020
Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.
Sandestig A et al.
Molecular Syndromology, 2019
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham SL et al.
Nature Communications, 2018
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.
Diets IJ et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.
Cianci P et al.
American Journal of Medical Genetics. Part A, 2017
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A et al.
European Journal of Human Genetics : Ejhg, 2015
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