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The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly
Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, mental retardation. We performed linkage analysis in a Tunisian family with NHS in which affe...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3172933/ https://ncbi.nlm.nih.gov/pubmed/21559051 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.52 |
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