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

Abstract 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 cas...

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Autores principales: Hossein Darvish, Luis J. Azcona, Abbas Tafakhori, Mona Ahmadi, Azadeh Ahmadifard, Coro Paisán-Ruiz
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
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R
Acceso en línea:https://doaj.org/article/9de323a647cb4eca849b68c8025aacfa
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