Marfan syndrome masked by Down syndrome?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cardiology and Cardiovascular Medicine
Link
http://link.springer.com/content/pdf/10.1007/BF03086281.pdf
Reference15 articles.
1. Frid C, Drott P, Lundell B, Rasmussen F, Anneren G. Mortality in Down's syndrome in relation to congenital malformations. J Intellect Disabil Res. 1999;43(Pt 3):234–41.
2. Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005;366: 1965–76.
3. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996;62:417–26.
4. Ho NC, Tran JR, Bektas A. Marfan's syndrome. Lancet. 2005;366: 1978–81.
5. Comeglio P, Johnson P, Arno G, Brice G, Evans A, Ragon-Martin J, et al. The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. Hum Mutat. 2007;28:928.
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1. Down syndrome with co-occurring Marfan syndrome;BMJ Case Reports;2020-09
2. Is one diagnosis the whole story? patients with double diagnoses;American Journal of Medical Genetics Part A;2016-06-08
3. An integrative computational analysis provides evidence for FBN1-associated network deregulation in trisomy 21;Biology Open;2013-06-20
4. Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome;Clinical Dysmorphology;2011-07
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