Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.

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作者： Isabella,Herman ^[1] ; Angad,Jolly ^[2] ; Haowei,Du ^[3] ; Moez,Dawood ^[2] ; Ghada M H,Abdel-Salam ^[4] ; Dana,Marafi ^[2] ; Tadahiro,Mitani ^[2] ; Daniel G,Calame ^[4] ; Zeynep,Coban-Akdemir ^[5] ; Jawid M,Fatih ^[6] ; Ibrahim,Hegazy ^[2] ; Shalini N,Jhangiani ^[7] ; Richard A,Gibbs ^[2] ; Davut,Pehlivan ^[1] ; Jennifer E,Posey ^[2] ; James R,Lupski ^[3]

作者单位： Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. ^[1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. ^[2] Texas Children's Hospital, Houston, Texas, USA. ^[3] Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA. ^[4] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA. ^[5] Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. ^[6] Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait. ^[7] Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA. ^[8] Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA. ^[9]

关键词 HPO blended phenotype multilocus pathogenic variation multiple molecular diagnosis neurogenetic