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TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.
Engwerda, Aafke; Leenders, Erika K S M; Frentz, Barbara; Terhal, Paulien A; Löhner, Katharina; de Vries, Bert B A; Dijkhuizen, Trijnie; Vos, Yvonne J; Rinne, Tuula; van den Berg, Maarten P; Roofthooft, Marc T R; Deelen, Patrick; van Ravenswaaij-Arts, Conny M A; Kerstjens-Frederikse, Wilhelmina S.
Afiliação
  • Engwerda A; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Leenders EKSM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Frentz B; Vanboeijen, Assen, The Netherlands.
  • Terhal PA; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
  • Löhner K; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Dijkhuizen T; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Vos YJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Rinne T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van den Berg MP; Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Roofthooft MTR; Department of Paediatric Cardiology, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.
  • Deelen P; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • van Ravenswaaij-Arts CMA; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
  • Kerstjens-Frederikse WS; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Eur J Hum Genet ; 29(11): 1669-1676, 2021 11.
Article em En | MEDLINE | ID: mdl-34456334
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas Adaptadoras de Transdução de Sinal / Nanismo / Doenças das Valvas Cardíacas / Instabilidade Articular / Cardiomiopatias Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas Adaptadoras de Transdução de Sinal / Nanismo / Doenças das Valvas Cardíacas / Instabilidade Articular / Cardiomiopatias Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda