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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Hoischen, Alexander; van Bon, Bregje W M; Rodríguez-Santiago, Benjamín; Gilissen, Christian; Vissers, Lisenka E L M; de Vries, Petra; Janssen, Irene; van Lier, Bart; Hastings, Rob; Smithson, Sarah F; Newbury-Ecob, Ruth; Kjaergaard, Susanne; Goodship, Judith; McGowan, Ruth; Bartholdi, Deborah; Rauch, Anita; Peippo, Maarit; Cobben, Jan M; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Veltman, Joris A; Brunner, Han G; de Vries, Bert B B A.
Affiliation
  • Hoischen A; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Nat Genet ; 43(8): 729-31, 2011 Jun 26.
Article in En | MEDLINE | ID: mdl-21706002
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Codon, Nonsense / Craniosynostoses / Polymorphism, Single Nucleotide / Intellectual Disability Type of study: Etiology_studies / Prognostic_studies Limits: Humans Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2011 Type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Codon, Nonsense / Craniosynostoses / Polymorphism, Single Nucleotide / Intellectual Disability Type of study: Etiology_studies / Prognostic_studies Limits: Humans Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2011 Type: Article Affiliation country: Netherlands