Associated Papers
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Di Donato N et al.
American Journal of Medical Genetics. Part A, 2016
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
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Rivière JB et al.
Nature Genetics, 2012
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