Congenital contractural arachnodactyly (Beals syndrome)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-1-20.pdf
Reference8 articles.
1. Robinson PN, Godfrey M: The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet. 2000, 37: 9-25. 10.1136/jmg.37.1.9.
2. Ramos Arroyo MA, Weaver DD, Beals RK: Congenital contractural arachnodactyly: report of four additional families and review of literature. Clin Genet. 1985, 27: 570-581.
3. Gupta PA, Putnam EA, Carmical SG, Kaitila I, Steinmann B, Child A, Danesino C, Metcalfe K, Berry SA, Chen E, Delorme CV, Thong MK, Ades LC, Milewicz DM: Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat. 2002, 19: 39-48. 10.1002/humu.10017.
4. Beals RK, Hecht F: Congenital contractural arachnodactyly: a heritable disorder of connective tissue. J Bone Joint Surg. 1971, 53A: 987-593.
5. Takaesu-Miyagi S, Sakai H, Shiroma T, Hayakawa K, Funakoshi Y, Sawaguchi S: Ocular findings of Beals syndrome. Jpn J Ophthalmol. 2004, 48: 470-474. 10.1007/s10384-004-0106-7.
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