A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.

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第一作者： Asmat,Ullah

第一单位： Faculty of Health and Medical Sciences, Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark.;Department of Pediatrics, Pakistan Institute of Medical Sciences, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.

作者： Asmat,Ullah ^[1] ; Jai,Krishin ^[2] ; Nighat,Haider ^[2] ; Brekhna,Aurangzeb ^[2] ; Abdullah ^[3] ; Sufyan,Suleman ^[4] ; Wasim,Ahmad ^[3] ; Torben,Hansen ^[4] ; Sulman,Basit ^[5]

作者单位： Faculty of Health and Medical Sciences, Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark.;Department of Pediatrics, Pakistan Institute of Medical Sciences, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan. ^[1] Department of Pediatrics, Pakistan Institute of Medical Sciences, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan. ^[2] Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University (QAU), Islamabad, 45320, Pakistan. ^[3] Faculty of Health and Medical Sciences, Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark. ^[4] Department of Biochemistry and Molecular Medicine, College of Medicine & Center for Genetics and Inherited Diseases, Taibah University, Medina, Saudi Arabia. sbasit.phd@gmail.com. ^[5]

关键词 EXOC8 Exocyst Neurodevelopmental disorder Novel nonsense variant Whole exome sequencing

主题词 DNA(DNA);纯合子(Homozygote);人类(Humans);系谱(Pedigree);表型(Phenotype)

DOI 10.1007/s10048-022-00692-7

PMID 35460391

发布时间 2022-12-07

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