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Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Marom, Ronit; Jain, Mahim; Burrage, Lindsay C; Song, I-Wen; Graham, Brett H; Brown, Chester W; Stevens, Servi J C; Stegmann, Alexander P A; Gunter, Andrew T; Kaplan, Julie D; Gavrilova, Ralitza H; Shinawi, Marwan; Rosenfeld, Jill A; Bae, Yangjin; Tran, Alyssa A; Chen, Yuqing; Lu, James T; Gibbs, Richard A; Eng, Christine; Yang, Yaping; Rousseau, Justine; de Vries, Bert B A; Campeau, Philippe M; Lee, Brendan.
Afiliação
  • Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Graham BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Brown CW; Department of Pediatrics/Genetics Division, University of Tennessee Health Science Center Memphis, Memphis, Tennessee.
  • Stevens SJC; Department of Human Genetics, Maastricht University Hospital, Maastricht, The Netherlands.
  • Stegmann APA; Department of Human Genetics, Maastricht University Hospital, Maastricht, The Netherlands.
  • Gunter AT; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi.
  • Kaplan JD; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi.
  • Gavrilova RH; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.
  • Shinawi M; Department of Neurology, Mayo Clinic, Rochester, Minnesota.
  • Rosenfeld JA; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri.
  • Bae Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Chen Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Lu JT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Gibbs RA; Helix, San Carlos, California.
  • Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Yang Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Rousseau J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • de Vries BBA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Campeau PM; Department of Pediatrics, CHU Ste-Justine and University of Montreal, Montreal, Canada.
  • Lee B; Department of Human Genetics and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
Hum Mutat ; 38(10): 1365-1371, 2017 10.
Article em En | MEDLINE | ID: mdl-28649782
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deformidades Congênitas da Mão / Proteínas Cromossômicas não Histona / Actinas / Mutação de Sentido Incorreto / Proteínas de Ligação a DNA / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deformidades Congênitas da Mão / Proteínas Cromossômicas não Histona / Actinas / Mutação de Sentido Incorreto / Proteínas de Ligação a DNA / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de publicação: Estados Unidos