Identification of three novel NHS mutations in families with Nance-Horan syndrome

PURPOSE: Nance-Horan Syndrome (NHS) is an infrequent and often overlooked X-linked disorder characterized by dense congenital cataracts, microphthalmia, and dental abnormalities. The syndrome is caused by mutations in the NHS gene, whose function is not known. The purpose of this study was to identi...

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Autores principales: Huang, Kristen M., Wu, Junhua, Brooks, Simon P., Hardcastle, Alison J., Lewis, Richard Alan, Stambolian, Dwight
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2007
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2647563/
https://ncbi.nlm.nih.gov/pubmed/17417607
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