Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients

Autor: Usha Kini, Sheela Nampoothiri, Marjolijn C.J. Jongmans, Denise Horn, Gijs W. E. Santen, Emmelien Aten, M. S Mancini Grazia, Ruth Newbury-Ecob, Elizabeth Sweeney, Merel W. Boogaard, Helen Kingston, Amanda L. Collins, Tjitske Kleefstra, Christian A.C. Van der Lans, Albertien M. van Eerde, Alice Gardham, Shane McKee, Miranda Splitt, Debbie Shears, Michael J. Parker, Victoria Harrison, Natalie Canham, Saskia M. Maas, Marjolein Kriek, Martijn H. Breuning, Nancy Kramer, Leigh Anne Flore, Gozde Yesil, Luis A. Pérez-Jurado, John M. Graham, Katherine Berry, Louise Brueton, Krystyna H. Chrzanowska, I. Karen Temple, Odile Boute, M. J Ellen Vollebregt, Bert B.A. de Vries, Jill Clayton-Smith, Beyhan Tüysüz, Patrícia Maciel, Johan T. den Dunnen, Caroline Pottinger, Ronelle Snowdowne, Robert Smigiel, Mafalda Barbosa, Isabelle Maystadt, May Tassabehji, Alan Fryer, Martine J. van Belzen, Louise C. Wilson, Margherita Silengo, Helen Stewart, Mariam Almureikhi, Anneke T. Vulto-van Silfhout, Ineke van der Burgt, Seema Kapoor, Catherine Vincent-Delorme, Caroline Rooryck, Tawfeg Ben-Omran, Michiel J R van der Wielen, Nicolette S. den Hollander, John Dean, Stefania Bigoni, Jeff M. Milunsky, Bregje W.M. van Bon, Sarah M. Nikkel, Arie van Haeringen, Gabriela Soares, Ankur Singh, Raoul C.M. Hennekam, Sarina G. Kant, Alexander Hoischen, Margot M L Linssen, Stephen P. Robertson, Anwar Baban, Dragana Josifova, Krajewska-Walasek Malgorzata Krajewska-Walasek, Teresa De Toni, Kate Chandler, Ivonne J H M van Minderhout, Linda Vijfhuizen

Publikováno v: Human Mutation, 34, 11, pp. 1519-28
Human Mutation, 34(11), 1519-1528. Wiley-Liss Inc.
Human Mutation, 34(11), 1519-1528
Human mutation, 34(11), 1519-1528. Wiley-Liss Inc.
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Human Mutation, 34, 1519-28

De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7a6b2b51360017e10426003c97b9ec2
https://doi.org/10.1002/humu.22394