Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

Nystagmus (involuntary, rhythmical eye movements) can arise due to sensory eye defects, in association with neurological disorders or as an isolated condition. We identified a family with early onset nystagmus and additional neurological features carrying a partial duplication of FGF14, a gene assoc...

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Detalles Bibliográficos
Autores principales: Ceroni, Fabiola, Osborne, Daniel, Clokie, Samuel, Bax, Dorine A., Cassidy, Emma J., Dunn, Matt J., Harris, Christopher M., Self, Jay E., Ragge, Nicola K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9995494/
https://www.ncbi.nlm.nih.gov/pubmed/36207621
http://dx.doi.org/10.1038/s41431-022-01197-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9995494/
https://www.ncbi.nlm.nih.gov/pubmed/36207621
http://dx.doi.org/10.1038/s41431-022-01197-5

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