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A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy

BACKGROUND: Congenital cervical spinal muscular atrophy (CCSMA) is a rare, nonprogressive, neurogenic disorder characterized by symmetric arthrogryposis and motor deficits mainly confined to upper extremities. Since its first proposal by Darwish et al. 39 years ago, only few cases have ever been rep...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Liu, Jingwei, Wang, Kelai, Li, Baomin, Yang, Xiaofan
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8104167/
https://ncbi.nlm.nih.gov/pubmed/33513289
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1606
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