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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Van Houdt, Jeroen K J; Nowakowska, Beata Anna; Sousa, Sérgio B; van Schaik, Barbera D C; Seuntjens, Eve; Avonce, Nelson; Sifrim, Alejandro; Abdul-Rahman, Omar A; van den Boogaard, Marie-José H; Bottani, Armand; Castori, Marco; Cormier-Daire, Valérie; Deardorff, Matthew A; Filges, Isabel; Fryer, Alan; Fryns, Jean-Pierre; Gana, Simone; Garavelli, Livia; Gillessen-Kaesbach, Gabriele; Hall, Bryan D; Horn, Denise; Huylebroeck, Danny; Klapecki, Jakub; Krajewska-Walasek, Malgorzata; Kuechler, Alma; Lines, Matthew A; Maas, Saskia; Macdermot, Kay D; McKee, Shane; Magee, Alex; de Man, Stella A; Moreau, Yves; Morice-Picard, Fanny; Obersztyn, Ewa; Pilch, Jacek; Rosser, Elizabeth; Shannon, Nora; Stolte-Dijkstra, Irene; Van Dijck, Patrick; Vilain, Catheline; Vogels, Annick; Wakeling, Emma; Wieczorek, Dagmar; Wilson, Louise; Zuffardi, Orsetta; van Kampen, Antoine H C; Devriendt, Koenraad; Hennekam, Raoul; Vermeesch, Joris Robert.
Affiliation
  • Van Houdt JK; Center for Human Genetics, Catholic University Leuven, University Hospital Gasthuisberg, Leuven, Belgium.
Nat Genet ; 44(4): 445-9, S1, 2012 Feb 26.
Article in En | MEDLINE | ID: mdl-22366787
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Foot Deformities, Congenital / Chromosomal Proteins, Non-Histone / Hypotrichosis / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2012 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Foot Deformities, Congenital / Chromosomal Proteins, Non-Histone / Hypotrichosis / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2012 Document type: Article Affiliation country: