Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.

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作者： Ahmet Okay,Caglayan ^[1] ; Beyhan,Tuysuz ^[2] ; Ece,Gül ^[3] ; Dilek Uludag,Alkaya ^[3] ; Cengiz,Yalcinkaya ^[4] ; Joseph G,Gleeson ^[5] ; Kaya,Bilguvar ^[6] ; Murat,Gunel ^[7]

作者单位： Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, 06520-8082, USA. ahmetokay.caglayan@deu.edu.tr. ^[1] Department of Pediatrics, Division of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey. beyhan@istanbul.edu.tr. ^[2] Department of Pediatrics, Division of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey. ^[3] Department of Neurology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey. ^[4] Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, 92093, USA. ^[5] Rady Children's Institute for Genomic Medicine, San Diego, CA, 92025, USA. ^[6] Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, 06520-8082, USA. ^[7] Yale Center for Genome Analysis, Yale School of Medicine, New Haven, CT, 06510, USA. ^[8]

主题词基因, 显性(Genes, Dominant);人类(Humans);微管相关蛋白质类(Microtubule-Associated Proteins);肌萎缩, 脊髓性(Muscular Atrophy, Spinal);突变(Mutation);突变, 误义(Mutation, Missense)

DOI 10.1038/s10038-022-01032-1

PMID 35338243

发布时间 2023-03-24

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