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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
Authors: Laumonnier, F.; Shoubridge, C.; Antar, C.; Nguyen, L. S.; Van Esch, H.; Kleefstra, T.; Briault, S.; Fryns, J. P.; Hamel, B.; Chelly, J.; Ropers, H.-H.; Ronce, N.; Blesson, S.; Moraine, C.; Gécz, J.; Raynaud, M.
Date of Publication (YYYY-MM-DD): 2009-02-24
Title of Journal: Molecular Psychiatry
Volume: 2009
Start Page: 1
End Page: 10
Document Type: Article
ID: 473311.0
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation.
Authors: Burdon, K. P.; McKay, J. D.; Sale, M. M.; Russell-Eggitt, I. M.; Mackey, D. A.; Wirth, G. M.; Elder, J. E.; Nicoll, A.; Clarke, M. P.; FitzGerald, L. M.; Stankovich, J. M.; Shaw, M. A.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A. K.; Thomas, T.; Gecz, J.; Graig, J. E.
Date of Publication (YYYY-MM-DD): 2003-11
Title of Journal: The American Journal of Human Genetics
Volume: 73
Issue / Number: 5
Start Page: 1120
End Page: 1130
Document Type: Article
ID: 60822.0
Entries: 1-2  
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