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  Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation.

Burdon, K. P., McKay, J. D., Sale, M. M., Russell-Eggitt, I. M., Mackey, D. A., Wirth, G. M., et al. (2003). Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation. The American Journal of Human Genetics, 73(5), 1120-1130. Retrieved from http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B8JDD-4RBW517-G-9&_cdi=43612&_user=38661&_pii=S0002929707619740&_orig=browse&_coverDate=11%2F30%2F2003&_sk=999269994&view=c&wchp=dGLzVzz-zSkzV&md5=bd36576cc208b4d05d8251101ab9aa02&ie=/sdarticle.pdf.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0012-EFC3-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002A-05C5-C
Genre: Journal Article

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 Creators:
Burdon, K. P., Author
McKay, J. D., Author
Sale, M. M., Author
Russell-Eggitt, I. M., Author
Mackey, D. A., Author
Wirth, G. M., Author
Elder, J. E., Author
Nicoll, A., Author
Clarke, M. P., Author
FitzGerald, L. M., Author
Stankovich, J. M., Author
Shaw, M. A., Author
Sharma, S., Author
Gajovic, S.1, Author              
Gruss, P.1, Author              
Ross, S., Author
Thomas, P., Author
Voss, A. K.1, Author              
Thomas, T.1, Author              
Gecz, J., Author
Graig, J. E., Author more..
Affiliations:
1Department of Molecular Cell Biology, MPI for biophysical chemistry, Max Planck Society, ou_578585              

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Language(s): eng - English
 Dates: 2003-11
 Publication Status: Published in print
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Title: The American Journal of Human Genetics
Source Genre: Journal
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Pages: - Volume / Issue: 73 (5) Sequence Number: - Start / End Page: 1120 - 1130 Identifier: -