Identification of a Fibrillin-1 Gene Mutation in a Monozygotic Twin Presenting with Bilateral Juvenile- onset Ectopia Lentis

참고문헌 (5)

1. Von Kodolitsch Y, "Marfan syndrome: an update of genetics, medical and surgical management", Heart, 93, pp.755~760 (2007)
2. Dietz HC, "Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders", Hum Mol Genet, 4, pp.1799~1809 (1995)
3. Faivre L, "Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands", J Med Genet, 45, pp.384~390 (2008)
4. Stheneur C, "Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene", Eur J Hum Genet, 17, pp.1121~1128 (2009)
5. Attanasio M, "FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations", Clin Genet, 74, pp.39~46 (2008)

관련 논문AI추천