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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Rivière, Jean-Baptiste; van Bon, Bregje W M; Hoischen, Alexander; Kholmanskikh, Stanislav S; O'Roak, Brian J; Gilissen, Christian; Gijsen, Sabine; Sullivan, Christopher T; Christian, Susan L; Abdul-Rahman, Omar A; Atkin, Joan F; Chassaing, Nicolas; Drouin-Garraud, Valerie; Fry, Andrew E; Fryns, Jean-Pierre; Gripp, Karen W; Kempers, Marlies; Kleefstra, Tjitske; Mancini, Grazia M S; Nowaczyk, Malgorzata J M; van Ravenswaaij-Arts, Conny M A; Roscioli, Tony; Marble, Michael; Rosenfeld, Jill A; Siu, Victoria M; de Vries, Bert B A; Shendure, Jay; Verloes, Alain; Veltman, Joris A; Brunner, Han G; Ross, M Elizabeth; Pilz, Daniela T; Dobyns, William B.
Affiliation
  • Rivière JB; Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, Washington, USA.
Nat Genet ; 44(4): 440-4, S1-2, 2012 Feb 26.
Article in En | MEDLINE | ID: mdl-22366783
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Brain / Actins Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2012 Document type: Article Affiliation country: United States Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Brain / Actins Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2012 Document type: Article Affiliation country: United States Country of publication: United States