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The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.
Chen, Chun-An; Crutcher, Emeline; Gill, Harinder; Nelson, Tanya N; Robak, Laurie A; Jongmans, Marjolijn C J; Pfundt, Rolph; Prasad, Chitra; Berard, Roberta A; Fannemel, Madeleine; Frengen, Eirik; Misceo, Doriana; Ramsey, Keri; Yang, Yaping; Schaaf, Christian P; Wang, Xia.
  • Chen CA; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.
  • Crutcher E; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.
  • Gill H; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.
  • Nelson TN; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.
  • Robak LA; Development, Disease Models, and Therapeutics Graduate Program, Baylor College of Medicine, Houston, Texas.
  • Jongmans MCJ; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Pfundt R; Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, Vancouver, British Columbia, Canada.
  • Prasad C; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Berard RA; Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Fannemel M; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
  • Frengen E; Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.
  • Misceo D; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Ramsey K; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Yang Y; Genetics and Development, Children's Health Research Institute, London, Ontario, Canada.
  • Schaaf CP; Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
  • Wang X; Genetics and Development, Children's Health Research Institute, London, Ontario, Canada.
Hum Mutat ; 41(10): 1738-1744, 2020 10.
Article en En | MEDLINE | ID: mdl-32643838
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cardiopatías Congénitas Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cardiopatías Congénitas Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article