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Dysgenesis of the posterior segment of the corpus callosum: don't miss SPG45!

作者信息

Guimarães Daniel de Faria, Almeida Ana Luiza Viegas de, Scortegagna Felipe Alba, Nunes Renato Hoffmann, Amorim Simone Consuelo, Pacheco Felipe Torres, Kok Fernando, Rocha Antonio José da

机构信息

Santa Casa de Misericórdia de São Paulo, Faculdade de Ciências Médicas, Departamento de Radiologia, São Paulo SP, Brazil.

Grupo DASA São Paulo, Departamento de Radiologia, São Paulo SP, Brazil.

出版信息

Arq Neuropsiquiatr. 2023 Mar;81(3):322-323. doi: 10.1055/s-0043-1763299. Epub 2023 Apr 14.

DOI:10.1055/s-0043-1763299
PMID:37059441
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10104749/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3444/10104749/a32f179732e9/10-1055-s-0043-1763299-i220170-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3444/10104749/a32f179732e9/10-1055-s-0043-1763299-i220170-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3444/10104749/a32f179732e9/10-1055-s-0043-1763299-i220170-1.jpg

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本文引用的文献

1
"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.“山猫耳”MRI 征与 SPG11 和 SPG15 遗传性痉挛性截瘫相关。
AJNR Am J Neuroradiol. 2019 Jan;40(1):199-203. doi: 10.3174/ajnr.A5935. Epub 2019 Jan 3.
2
NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.NT5C2新型剪接变体扩展了痉挛性截瘫（SPG45）的表型谱：胼胝体变薄SPG亚组新成员的病例报告
BMC Med Genet. 2017 Mar 21;18(1):33. doi: 10.1186/s12881-017-0395-6.