Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00508-013-0358-7.pdf
Reference11 articles.
1. Callewaert BL, Loeys BL, Ficcadenti A, et al. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Hum Mutat. 2009;30(3):334–1.
2. Jones JL, Lane JE, Logan JJ, et al. Beals–Hecht syndrome. South Med J. 2002;95(7):753–5.
3. Fehlow P. Congenital contractural arachnodactyly (Beals–Hecht syndrome) associated with Brown’s syndrome. Klin Monbl Augenheilkd. 2005;222(5):440–3.
4. Park ES, Putnam EA, Chitayat D, et al. Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. Am J Med Genet. 1998;78(4):350–5.
5. Su PH, Hou JW, Hwu WL, et al. Congenital contractural arachnodactyly (Beals syndrome). Acta Paediatr Taiwan. 2000;41(2):69–74.
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