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EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.

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第一作者： Muhammad,Umair

第一单位： Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.

作者： Muhammad,Umair ^[1] ; Mariam,Ballow ^[1] ; Abdulaziz,Asiri ^[1] ; Yusra,Alyafee ^[1] ; Abeer,Al Tuwaijri ^[1] ; Kheloud M,Alhamoudi ^[1] ; Taghrid,Aloraini ^[2] ; Marwa,Abdelhakim ^[3] ; Azza Thamer,Althagafi ^[4] ; Senay,Kafkas ^[3] ; Lamia,Alsubaie ^[5] ; Muhammad Talal,Alrifai ^[6] ; Robert,Hoehndorf ^[3] ; Ahmed,Alfares ^[7] ; Majid,Alfadhel ^[8]

作者单位： Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia. ^[1] Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia. ^[2] Computer, Electrical and Mathematical Sciences & Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia. ^[3] Computer, Electrical and Mathematical Sciences & Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.;College of Computers and Information Technology, Taif University, Taif, Saudi Arabia. ^[4] Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia. ^[5] Department of Pediatrics, Division of Neurology, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia. ^[6] Department of Pediatrics, College of Medicine, Qassim University, Saudi Arabia. ^[7] Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.;Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Riyadh, Saudi Arabia. ^[8]

关键词 EMC10 intellectual disability speech delay and global developmental delay splice acceptor site variant