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

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

Abstract 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 ph...

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Autores principales: Luke O’Gorman, Chelsea S. Norman, Luke Michaels, Tutte Newall, Andrew H. Crosby, Christopher Mattocks, Angela J. Cree, Andrew J. Lotery, Emma L. Baple, J. Arjuna Ratnayaka, Diana Baralle, Helena Lee, Daniel Osborne, Fatima Shawkat, Jane Gibson, Sarah Ennis, Jay E. Self
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
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Medicine
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Science
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Acceso en línea:https://doaj.org/article/b9cd1a136f474a9fb875e2845e84278d
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https://doaj.org/article/b9cd1a136f474a9fb875e2845e84278d

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