Abnormal retinal development associated with FRMD7 mutations

Idiopathic infantile nystagmus (IIN) is a genetically heterogeneous disorder, often associated with FRMD7 mutations. As the appearance of the retina is reported to be normal based on conventional fundus photography, IIN is postulated to arise from abnormal cortical development. To determine whether...

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Detalhes bibliográficos
Main Authors: Thomas, Mervyn G., Crosier, Moira, Lindsay, Susan, Kumar, Anil, Araki, Masasuke, Leroy, Bart P., McLean, Rebecca J., Sheth, Viral, Maconachie, Gail, Thomas, Shery, Moore, Anthony T., Gottlob, Irene
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4082370/
https://ncbi.nlm.nih.gov/pubmed/24688117
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu122
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