<i>STAG1</i> mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Lehalle, Daphné; Mosca-Boidron, Anne-Laure; Begtrup, Amber; Boute-Benejean, Odile; Charles, Perrine; Cho, Megan T; Clarkson, Amanda; Devinsky, Orrin; Duffourd, Yannis; Duplomb-Jego, Laurence; Gérard, Bénédicte; Jacquette, Aurélia; Kuentz, Paul; Masurel-Paulet, Alice; McDougall, Carey; Moutton, Sébastien; Olivié, Hilde; Park, Soo-Mi; Rauch, Anita; Revencu, Nicole; Rivière, Jean-Baptiste; Rubin, Karol; Simonic, Ingrid; Shears, Deborah J; Smol, Thomas; Taylor Tavares, Ana Lisa; Terhal, Paulien; Thevenon, Julien; Van Gassen, Koen; Vincent-Delorme, Catherine; Willemsen, Marjolein H; Wilson, Golder N; Zackai, Elaine; Zweier, Christiane; Callier, Patrick; Thauvin-Robinet, Christel; Faivre, Laurence.
J Med Genet; 54(7): 479-488, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28119487