Associated Papers
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.
Miyoshi T et al.
Human Genetics, 2022
Baraitser-Winter cerebrofrontofacial syndrome.
Yates TM et al.
Clinical Genetics, 2017
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A et al.
European Journal of Human Genetics : Ejhg, 2015
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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