NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Optic nerve atrophy and hypoplasia can be primary disorders or can result from trans-synaptic degeneration arising from cerebral visual impairment (CVI). Here we report six individuals with CVI and/or optic nerve abnormalities, born after an uneventful pregnancy and delivery, who have either de novo...

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Detaylı Bibliyografya
Asıl Yazarlar: Bosch, Daniëlle G.M., Boonstra, F. Nienke, Gonzaga-Jauregui, Claudia, Xu, Mafei, de Ligt, Joep, Jhangiani, Shalini, Wiszniewski, Wojciech, Muzny, Donna M., Yntema, Helger G., Pfundt, Rolph, Vissers, Lisenka E.L.M., Spruijt, Liesbeth, Blokland, Ellen A.W., Chen, Chun-An, Lewis, Richard A., Tsai, Sophia Y., Gibbs, Richard A., Tsai, Ming-Jer, Lupski, James R., Zoghbi, Huda Y., Cremers, Frans P.M., de Vries, Bert B.A., Schaaf, Christian P.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2014
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3928641/
https://ncbi.nlm.nih.gov/pubmed/24462372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.01.002
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