Article
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
European journal of human genetics : EJHG - 1 Mar 2015
Verloes Alain, Di Donato Nataliya, Masliah-Planchon Julien, Jongmans Marjolijn, Abdul-Raman Omar A, Albrecht Beate, Allanson Judith, Brunner Han, Bertola Debora, Chassaing Nicolas, David Albert, Devriendt Koen, Eftekhari Pirayeh, Drouin-Garraud Valérie, Faravelli Francesca, Faivre Laurence, Giuliano Fabienne, Guion Almeida Leina, Juncos Jorge, Kempers Marlies, Eker Hatice Koçak, Lacombe Didier, Lin Angela, Mancini Grazia, Melis Daniela, Lourenço Charles Marques, Siu Victoria Mok, Morin Gilles, Nezarati Marjan, Nowaczyk Malgorzata J M, Ramer Jeanette C, Osimani Sara, Philip Nicole, Pierpont Mary Ella, Procaccio Vincent, Roseli Zeichi-Seide, Rossi Massimiliano, Rusu Cristina, Sznajer Yves, Templin Ludivine, Uliana Vera, Klaus Mirjam, Van Bon Bregje, Van Ravenswaaij Conny, Wainer Bruce, Fry Andrew E, Rump Andreas, Hoischen Alexander, Drunat Séverine, Rivière Jean-Baptiste, Dobyns William B, Pilz Daniela T
Abstract excerpt
Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode β- and γ-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly...
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