Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome

Author:

Wang Jin’e,Yan Yupeng,Chen Jinxing,Gong Ling,Zhang Yu,Yuan Mengmeng,Cui Bing,Wang Yibo

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Reference26 articles.

1. Hewett D, Lynch J, Child A, Firth H, Sykes B (1994) Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome. Am J Hum Genet 55(3):447–452

2. Aubart M, Gross MS, Hanna N, Zabot MT, Sznajder M, Detaint D, Gouya L, Jondeau G, Boileau C, Stheneur C (2015) The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele. Hum Mol Genet 24(10):2764–2770

3. Mizuguchi T, Matsumoto N (2007) Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet 52(1):1–12

4. Judge DP, Dietz HC (2005) Marfan’s syndrome. Lancet 366(9501):1965–1976

5. Wang F, Li B, Lan L, Li L (2015) C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family. Mol Vis 21:194–200

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