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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

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第一作者: Bret L,Bostwick
第一单位: Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA. bostwick@bcm.edu.
作者单位: Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA. bostwick@bcm.edu. [1] Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.;Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, 78207, USA. [2] Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA. [3] Division of Medical Genetics, A.I. duPont Hospital for Children/Nemours, Wilmington, DE, USA. [4] Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA. [5] Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.;Baylor Genetics, Baylor College of Medicine, Houston, TX, USA. [6] Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA. [7] Department of Pediatrics, Section of Medical Genetics, West Virginia University Health Sciences Center, Morgantown, WV, USA. [8] Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, USA. [9] Division of Magnetic Resonance Imaging, Silesian Center for Heart Disease, Zabrze, Poland. [10] The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. [11] Department of Molecular and Human Genetics, Baylor College of Medicine, 6701 Fannin St, Suite 1560, Houston, TX, 77030, USA.;Texas Children's Hospital, Houston, TX, 77030, USA.;Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.;Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA. [12]
DOI 10.1186/s13073-017-0463-8
PMID 28807008
发布时间 2023-08-07
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