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Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.

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第一作者： Albandary,Al-Bakheet

第一单位： Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

作者： Albandary,Al-Bakheet ^[1] ; Mohamed,Tohary ^[2] ; Sameena,Khan ^[3] ; Aziza,Chedrawi ^[3] ; Alaa,Edrees ^[2] ; Ehab,Tous ^[3] ; Hamoud,Al-Mousa ^[4] ; Lefian,Al-Otaibi ^[5] ; Saif,AlShahrani ^[2] ; Maysoon,Alsagob ^[1] ; Laila,Al-Quait ^[1] ; Rawan,Almass ^[1] ; Haya,Al-Joudi ^[3] ; Dorota,Monies ^[1] ; Abdulaziz,Al-Semari ^[3] ; Mazhor,Aldosary ^[1] ; Maha,Daghestani ^[6] ; Dilek,Colak ^[7] ; Namik,Kaya ^[8] ; Mohammed,Al-Owain ^[9]

作者单位： Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[1] Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[2] Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[3] Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[4] Department of Radiology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[5] Division of Genetics, Zoology Department, College of Science, King Saud University, Riyadh, Saudi Arabia. ^[6] Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[7] Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.;Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. ^[8] Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.;College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. ^[9]

关键词 TBCD corpus callosum hematological findings neurodegenerative disease neutropenia