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A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome
PURPOSE: To report a case series of patients with novel forkhead box CI (FOXC1) mutations in a Korean family with Axenfeld-Rieger syndrome (ARS). METHODS: Four members of the same family underwent complete ophthalmologic and systemic examinations and genetic analysis. Genomic DNA was isolated from p...
Autores principales: | Kim, Gyu-Nam, Ki, Chang-Seok, Seo, Seong-Wook, Yoo, Ji-Myong, Han, Yong-Seop, Chung, In-Young, Park, Jong-Moon, Kim, Seong-Jae |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654851/ https://www.ncbi.nlm.nih.gov/pubmed/23687430 |
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