The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-017-0754-6.pdf
Reference35 articles.
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2. Proost D, Vandeweyer G, Meester JA, Salemink S, Kempers M, Ingram C, et al. Performant mutation identification using targeted next-generation sequencing of 14 thoracic aortic aneurysm genes. Hum Mutat. 2015;36:808–14.
3. Sinha KP, Goldberg H. Marfan's syndrome: a case with complete dissection of the aorta. Am Heart J. 1958;56:890–7.
4. Groth KA, Hove H, Kyhl K, Folkestad L, Gaustadnes M, Vejlstrup N, et al. Prevalence, incidence, and age at diagnosis in Marfan syndrome. Orphanet J Rare Dis. 2015;10:153.
5. Judge DP, Dietz HC. Marfan’s syndrome. Lancet. 2005;366:1965–76.
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