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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
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Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082370/
https://www.ncbi.nlm.nih.gov/pubmed/24688117
http://dx.doi.org/10.1093/hmg/ddu122

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