Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Author:

Santen Gijs W.E.1,Aten Emmelien1,Vulto-van Silfhout Anneke T.2,Pottinger Caroline3,van Bon Bregje W.M.24,van Minderhout Ivonne J.H.M.1,Snowdowne Ronelle1,van der Lans Christian A.C.1,Boogaard Merel1,Linssen Margot M.L.1,Vijfhuizen Linda1,van der Wielen Michiel J.R.1,Vollebregt M.J. Ellen1,Breuning Martijn H.1,Kriek Marjolein1,van Haeringen Arie15,den Dunnen Johan T.1,Hoischen Alexander24,Clayton-Smith Jill6,de Vries Bert B.A.2,Hennekam Raoul C.M.7,van Belzen Martine J.1,Almureikhi Mariam,Baban Anwar,Barbosa Mafalda,Ben-Omran Tawfeg,Berry Katherine,Bigoni Stefania,Boute Odile,Brueton Louise,van der Burgt Ineke,Canham Natalie,Chandler Kate E.,Chrzanowska Krystyna,Collins Amanda L.,de Toni Teresa,Dean John,den Hollander Nicolette S.,Flore Leigh Anne,Fryer Alan,Gardham Alice,Graham John M.,Harrison Victoria,Horn Denise,Jongmans Marjolijn C.,Josifova Dragana,Kant Sarina G.,Kapoor Seema,Kingston Helen,Kini Usha,Kleefstra Tjitske,Krajewska-Walasek Małgorzata,Kramer Nancy,Maas Saskia M.,Maciel Patricia,Mancini Grazia M.S.,Maystadt Isabelle,McKee Shane,Milunsky Jeff M.,Nampoothiri Sheela,Newbury-Ecob Ruth,Nikkel Sarah M.,Parker Michael J.,Pérez-Jurado Luis A.,Robertson Stephen P.,Rooryck Caroline,Shears Debbie,Silengo Margherita,Singh Ankur,Smigiel Robert,Soares Gabriela,Splitt Miranda,Stewart Helen,Sweeney Elizabeth,Tassabehji May,Tuysuz Beyhan,van Eerde Albertien M.,Vincent-Delorme Catherine,Wilson Louise C.,Yesil Gozde,

Affiliation:

1. Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands

2. Department of Human Genetics; Radboud University Medical Centre; Nijmegen The Netherlands

3. All Wales Medical Genetics Service; Glan Clwyd Hospital; Rhyl UK

4. Nijmegen Center for Molecular Life Sciences; Institute for Genetic and Metabolic Disease; Radboud University Medical Centre; Nijmegen The Netherlands

5. Department of Clinical Genetics; Juliana Children's Hospital-Haga Teaching Hospital; The Hague The Netherlands

6. Manchester Biomedical Research Centre; MAHSC, St Mary's Hospital; Manchester UK

7. Department of Pediatrics; Academic Medical Center; Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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