Publication
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
Jeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, Barbera D C van Schaik, Eve Seuntjens, Nelson Avonce, Alejandro Sifrim, Omar A Abdul-Rahman, Marie-José H van den Boogaard, Armand Bottani, Marco Castori, Valérie Cormier-Daire, Matthew A Deardorff, Isabel Filges, Alan Fryer, Jean-Pierre Fryns, Simone Gana, Livia Garavelli, Gabriele Gillessen-Kaesbach, Bryan D Hall, Denise Horn, Danny Huylebroeck, Jakub Klapecki, Malgorzata Krajewska-Walasek, Alma Kuechler, Matthew A Lines, Saskia Maas, Kay D MacDermot, Shane McKee, Alex Magee, Stella A de Man, Yves Moreau, Fanny Morice-Picard, Ewa Obersztyn, Jacek Pilch, Elizabeth Rosser, Nora Shannon, Irene Stolte-Dijkstra, Patrick Van Dijck, Catheline Vilain, Annick Vogels, Emma Wakeling, Dagmar Wieczorek, Louise Wilson, Orsetta Zuffardi, Antoine H C van Kampen, Koenraad Devriendt, Raoul Hennekam, Joris Robert Vermeesch
Nature Genetics, February 2012, Springer Science + Business Media
DOI: 10.1038/ng.1105