A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family

A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family

AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome (MFS) phenotype and an unusual bilateral macular degeneration. METHODS: Ophthalmic, cardiovascular and systemic examinations were performed, and genomic DNA extracted from all living family m...

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Bibliographic Details
Main Authors: Ping-Bo Ouyang, Yuan Zhao, Ying-Qian Peng, Lu-Si Zhang, Jian Cao, Yun Li
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2019-05-01
Series:International Journal of Ophthalmology
Subjects:
marfan syndrome
fibrillin-1
autosomal dominant
heterozygous mutation
Online Access:http://www.ijo.cn/en_publish/2019/5/20190505.pdf

Internet

http://www.ijo.cn/en_publish/2019/5/20190505.pdf

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