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Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.

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作者单位: Genetics and Genomic Medicine Centre, NeuroGen Children's Healthcare, Dhaka, Bangladesh. [1] Department of Biochemistry and Molecular Biology, University of Dhaka, Dhaka, Bangladesh. [2] Department of Genetic Engineering & Biotechnology, University of Dhaka, Dhaka, Bangladesh. [3] College of Medicine, Mohammed Bin Rashid University of Medicine and Health Science, Dubai, UAE. [4] BioTED, Dhaka, Bangladesh. [5] Department of Child Neurology, NeuroGen Children's Healthcare, Dhaka, Bangladesh. [6] Department of Endocrinology & Metabolism, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. [7] Department of Genetics, Harvard Medical School, Boston, USA. [8] The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada. [9] Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK. [10] Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada. [11] Faculty of Medicine, Memorial University, St. John's, NL, Canada. [12] McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. [13] College of Medicine, Mohammed Bin Rashid University of Medicine and Health Science, Dubai, UAE. mohammed.uddin@mbru.ac.ae. [14]
DOI 10.1038/s41525-021-00173-0
PMID 33594065
发布时间 2023-01-30
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NPJ genomic medicine

NPJ genomic medicine

2021年6卷1期

14页

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