Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia

Hereditary spastic paraplegias are a rare group of clinically and genetically heterogeneous neurodegenerative diseases, with upper motor neuron degeneration and progressive lower limb spasticity as their main phenotypic features. Despite that 76 distinct loci have been reported and some casual genes...

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Detalhes bibliográficos
Publicado no:NPJ Genom Med
Main Authors: Darvish, Hossein, Azcona, Luis J., Tafakhori, Abbas, Ahmadi, Mona, Ahmadifard, Azadeh, Paisán-Ruiz, Coro
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5675118/
https://ncbi.nlm.nih.gov/pubmed/29123918
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-017-0022-7
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