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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654851/
https://www.ncbi.nlm.nih.gov/pubmed/23687430

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3654851/
https://www.ncbi.nlm.nih.gov/pubmed/23687430

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