Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families

PURPOSE: To identify the causative mutations in two Chinese families with autosomal dominant Marfan syndrome and to describe the associated phenotypes. METHODS: Complete physical, ophthalmic, and cardiovascular examinations were given to the patients and unaffected individuals in the two families. E...

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Detalles Bibliográficos
Autores principales: Zhao, Feng, Pan, Xinyuan, Zhao, Kanxing, Zhao, Chen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626374/
https://www.ncbi.nlm.nih.gov/pubmed/23592911

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