Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg201510.pdf
Reference25 articles.
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2. Faivre, L., Collod-Beroud, G., Loeys, B. L., Child, A., Binquet, C., Gautier, E. et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am. J. Hum. Genet. 81, 454–466 (2007).
3. Gray, J. R., Bridges, A. B., Faed, M. J., Pringle, T., Baines, P., Dean, J. et al. Ascertainment and severity of Marfan syndrome in a Scottish population. J. Med. Genet. 31, 51–54 (1994).
4. Turner, C. L., Emery, H., Collins, A. L., Howarth, R. J., Yearwood, C. M., Cross, E. et al. Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. Am. J. Med. Genet. A 149A, 161–170 (2009).
5. Biggin, A., Holman, K., Brett, M., Bennetts, B. & Ades, L. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. Hum. Mutat. 23, 99 (2004).
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