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BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
Soblet, Julie; Dimov, Ivan; Graf von Kalckreuth, Clemens; Cano-Chervel, Julie; Baijot, Simon; Pelc, Karin; Sottiaux, Martine; Vilain, Catheline; Smits, Guillaume; Deconinck, Nicolas.
Afiliação
  • Soblet J; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.
  • Dimov I; Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.
  • Graf von Kalckreuth C; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles, Brussels, Belgium.
  • Cano-Chervel J; Faculté de Médecine ULB, Université Libre de Bruxelles, Brussels, Belgium.
  • Baijot S; Department of Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
  • Pelc K; Department of Child and Adolescent Psychiatry, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
  • Sottiaux M; Department of Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
  • Vilain C; Department of Child and Adolescent Psychiatry, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
  • Smits G; Department of Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
  • Deconinck N; Department of Pediatric Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
Am J Med Genet A ; 176(1): 201-208, 2018 01.
Article em En | MEDLINE | ID: mdl-28960836
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Apraxias / Fenótipo / Proteínas Nucleares / Proteínas de Transporte / Mutação da Fase de Leitura / Hipotonia Muscular Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Apraxias / Fenótipo / Proteínas Nucleares / Proteínas de Transporte / Mutação da Fase de Leitura / Hipotonia Muscular Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article