首页> European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society> Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

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第一作者： Majid,Alfadhel

第一单位： Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Riyadh, Saudi Arabia. Electronic address: dralfadhelm@gmail.com.

作者： Majid,Alfadhel ^[1] ; Marwan,Nashabat ^[2] ; Muhammad Talal,Alrifai ^[3] ; Hesham,Alshaalan ^[4] ; Fuad,Al Mutairi ^[2] ; Saif A,Al-Shahrani ^[5] ; Barbara,Plecko ^[6] ; Rawan,Almass ^[7] ; Maysoon,Alsagob ^[7] ; Faten B,Almutairi ^[7] ; Ahmed,Al-Rumayyan ^[3] ; Waleed,Al-Twaijri ^[3] ; Mohammed,Al-Owain ^[5] ; Robert W,Taylor ^[8] ; Namik,Kaya ^[9]

作者单位： Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Riyadh, Saudi Arabia. Electronic address: dralfadhelm@gmail.com. ^[1] Genetics Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Riyadh, Saudi Arabia. ^[2] Neurology Division, Department of Pediatrics, King Saud bin Abdulaziz University for Health Science, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, Riyadh, Saudi Arabia. ^[3] Medical Imaging Department, King Abdullah Specialized Children Hospital, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia. ^[4] Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Alfaisal University, Riyadh, Saudi Arabia. ^[5] Division of Child Neurology, University Children's Hospital, Zurich, Switzerland. ^[6] Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[7] Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK. ^[8] Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address: namikkaya@gmail.com. ^[9]

关键词 Hypotonia ISCA2 Mitochondrial disease Neurodevelopmental regression White matter