Associated Papers
Molecular mechanisms of hotspot variants in cytoskeletal β-actin associated with Baraitser-Winter syndrome.
Greve JN et al.
The Febs Journal, 2025
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
Di Donato N et al.
European Journal of Human Genetics : Ejhg, 2014
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.
Johnston JJ et al.
Human Mutation, 2013
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