A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping

Nystagmus is a disorder of uncontrolled eye movement and can occur as an isolated trait (idiopathic INS, IINS) or as part of multisystem disorders such as albinism, significant visual disorders or neurological disease. Eighty-one unrelated patients with nystagmus underwent routine ocular phenotyping...

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Detalles Bibliográficos
Autores principales: O’Gorman, Luke, Norman, Chelsea S., Michaels, Luke, Newall, Tutte, Crosby, Andrew H., Mattocks, Christopher, Cree, Angela J., Lotery, Andrew J., Baple, Emma L., Ratnayaka, J. Arjuna, Baralle, Diana, Lee, Helena, Osborne, Daniel, Shawkat, Fatima, Gibson, Jane, Ennis, Sarah, Self, Jay E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744446/
https://www.ncbi.nlm.nih.gov/pubmed/31519934
http://dx.doi.org/10.1038/s41598-019-49368-7

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