Laddar...
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
Pediatric-onset ataxias often present clinically with developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a novel clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ata...
Sparad:
I publikationen: | Nat Genet |
---|---|
Huvudupphovsmän: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Materialtyp: | Artigo |
Språk: | Inglês |
Publicerad: |
2015
|
Ämnen: | |
Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4414867/ https://ncbi.nlm.nih.gov/pubmed/25848753 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3256 |
Taggar: |
Lägg till en tagg
Inga taggar, Lägg till första taggen!
|