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Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
Gold, Nina B; Li, Dong; Chassevent, Anna; Kaiser, Frank J; Parenti, Ilaria; Strom, Tim M; Ramos, Feliciano J; Puisac, Beatriz; Pié, Juan; McWalter, Kirsty; Guillen Sacoto, Maria J; Cui, Hong; Saadeh-Haddad, Reem; Smith-Hicks, Constance; Rodan, Lance; Blair, Edward; Bhoj, Elizabeth.
Afiliação
  • Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Massachusetts, USA.
  • Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Chassevent A; Department of Neurogenetics, The Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Ramos FJ; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
  • Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Department of Paediatrics, Hospital "Lozano Blesa", School of Medicine, University of Zaragoza, IIS-Aragón and CIBERER-GCV02, Zaragoza, Spain.
  • Pié J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Department of Paediatrics, Hospital "Lozano Blesa", School of Medicine, University of Zaragoza, IIS-Aragón and CIBERER-GCV02, Zaragoza, Spain.
  • McWalter K; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Department of Paediatrics, Hospital "Lozano Blesa", School of Medicine, University of Zaragoza, IIS-Aragón and CIBERER-GCV02, Zaragoza, Spain.
  • Guillen Sacoto MJ; GeneDx Inc., Gaithersburg, Maryland, USA.
  • Cui H; GeneDx Inc., Gaithersburg, Maryland, USA.
  • Saadeh-Haddad R; GeneDx Inc., Gaithersburg, Maryland, USA.
  • Smith-Hicks C; Division of Genetics, MedStar Georgetown University Hospital Department of Pediatrics, Washington, District of Columbia, USA.
  • Rodan L; Departments of Neurology and Neurogenetics, The Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Blair E; Division of Genetics and Genomics and Division of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Bhoj E; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Trust, Oxford, UK.
Clin Genet ; 98(6): 571-576, 2020 12.
Article em En | MEDLINE | ID: mdl-33009664
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Predisposição Genética para Doença / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Predisposição Genética para Doença / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos