Case report: A novel <i>de novo</i> loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia.

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第一作者： Misbahuddin M,Rafeeq

第一单位： Department of Pharmacology, Faculty of Medicine, Rabigh, King Abdulaziz University, Jeddah, Saudi Arabia.

作者： Misbahuddin M,Rafeeq ^[1] ; Hussam Aly Sayed,Murad ^[1] ; Najumuddin ^[2] ; Samee,Ullah ^[3] ; Zaheer,Ahmed ^[4] ; Qamre,Alam ^[5] ; Muhammad,Bilal ^[6] ; Alaa Hamed,Habib ^[7] ; Ziaullah M,Sain ^[8] ; Muhammad Jawad,Khan ^[4] ; Muhammad,Umair ^[9]

作者单位： Department of Pharmacology, Faculty of Medicine, Rabigh, King Abdulaziz University, Jeddah, Saudi Arabia. ^[1] National Center for Bioinformatics (NCB), Quaid-i-Azam University, Islamabad, Pakistan. ^[2] National Center for Bioinformatics (NCB), Islamabad, Pakistan. ^[3] Department of Biosciences, COMSATS University, Islamabad, Pakistan. ^[4] Molecular Genomics and Precision Medicine, ExpressMed Laboratories, Zinj, Bahrain. ^[5] Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan. ^[6] Department of Physiology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia. ^[7] Department of Microbiology, Faculty of Medicine, Rabigh, King Abdulaziz University, Jeddah, Saudi Arabia. ^[8] Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.;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. ^[9]

关键词 TBX2 WES chondrodysplasia nonsense mutation novel variant

DOI 10.3389/fgene.2022.1117500

PMID 36733940

发布时间 2023-02-04

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