X-linked cataract and Nance-Horan syndrome are allelic disorders

Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identified in patients with this syndrome. We previously ma...

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Autori principali: Coccia, Margherita, Brooks, Simon P., Webb, Tom R., Christodoulou, Katja, Wozniak, Izabella O., Murday, Victoria, Balicki, Martha, Yee, Harris A., Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K., Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J., Maher, Eamonn R., Moore, Anthony T., Russell-Eggitt, Isabelle M., Hardcastle, Alison J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2701339/
https://ncbi.nlm.nih.gov/pubmed/19414485
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp206
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