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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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Bibliografische gegevens
Gepubliceerd in:Mol Genet Genomic Med
Hoofdauteurs: Liu, Jingwei, Wang, Kelai, Li, Baomin, Yang, Xiaofan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2021
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Online toegang: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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