Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

Infantile nystagmus (IN) is a genetically heterogeneous disorder arising from variants of genes expressed within the developing retina and brain. IN presents a diagnostic challenge and patients often undergo numerous investigations. We aimed to develop and assess the utility of a next-generation seq...

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Detalles Bibliográficos
Autores principales: Thomas, Mervyn G, Maconachie, Gail DE, Sheth, Viral, McLean, Rebecca J, Gottlob, Irene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477371/
https://www.ncbi.nlm.nih.gov/pubmed/28378818
http://dx.doi.org/10.1038/ejhg.2017.44

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477371/
https://www.ncbi.nlm.nih.gov/pubmed/28378818
http://dx.doi.org/10.1038/ejhg.2017.44

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