메뉴 건너뛰기




Volumn 73, Issue 5, 2006, Pages 285-288

Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome)

Author keywords

Beals syndrome (congenital contractural arachnodactyly; CCA); Cardiomyopathy; Noncompaction

Indexed keywords

FIBRILLIN 1; FIBRILLIN 2;

EID: 33750503444     PISSN: 13454676     EISSN: 13473409     Source Type: Journal    
DOI: 10.1272/jnms.73.285     Document Type: Article
Times cited : (24)

References (10)
  • 1
    • 0001885603 scopus 로고    scopus 로고
    • Marfan syndrome and related disorders
    • (Scriver GR, Beaudet AL, Sly WS, Valle D, eds), McGraw-Hill, New York
    • Harry CD, Reed EP: Marfan syndrome and related disorders. In The metabolic and molecular bases of inherited disease (Scriver GR, Beaudet AL, Sly WS, Valle D, eds), 2001; pp 5287-5311, McGraw-Hill, New York.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease , pp. 5287-5311
    • Harry, C.D.1    Reed, E.P.2
  • 2
    • 0021284636 scopus 로고
    • Cardiovascular findings in congenital contractural arachnodactyly: Report of an affected kindred
    • Ricahard AA, Sandra K, Daniel DO: Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred. Am J Med Genet 1984; 18: 263-271.
    • (1984) Am J Med Genet , vol.18 , pp. 263-271
    • Ricahard, A.A.1    Sandra, K.2    Daniel, D.O.3
  • 3
    • 0021874852 scopus 로고
    • Cardiac defects in a patient with congenital contractural arachnodactyly
    • Bell RE, Wheller JJ: Cardiac defects in a patient with congenital contractural arachnodactyly. Southern Med J 1985; 78: 742-743.
    • (1985) Southern Med J , vol.78 , pp. 742-743
    • Bell, R.E.1    Wheller, J.J.2
  • 4
    • 0018142404 scopus 로고
    • Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infant
    • Gruber MA, Graham TP Jr, Engel E, et al.: Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infant. J Pediatr 1978; 93: 80-82.
    • (1978) J Pediatr , vol.93 , pp. 80-82
    • Gruber, M.A.1    Graham Jr., T.P.2    Engel, E.3
  • 5
    • 0025900544 scopus 로고
    • Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
    • Lee B, Godfrey M, Vitale E, et al.: Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 1991; 352: 330-334.
    • (1991) Nature , vol.352 , pp. 330-334
    • Lee, B.1    Godfrey, M.2    Vitale, E.3
  • 6
    • 0025886783 scopus 로고
    • Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
    • Dietz HC, Cutting GR, Pyeritz RE, et al.: Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337-339.
    • (1991) Nature , vol.352 , pp. 337-339
    • Dietz, H.C.1    Cutting, G.R.2    Pyeritz, R.E.3
  • 7
    • 0026315446 scopus 로고
    • Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils
    • Sakai LY, Keene DR, Glanville RW, Bachinger HP: Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils. J Biol Chem 1991; 266: 14763-14770.
    • (1991) J Biol Chem , vol.266 , pp. 14763-14770
    • Sakai, L.Y.1    Keene, D.R.2    Glanville, R.W.3    Bachinger, H.P.4
  • 8
    • 0029023792 scopus 로고
    • Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils
    • Zhang H, Hu W, Ramirez F: Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J Cell Biol 1995; 129: 1165-1176.
    • (1995) J Cell Biol , vol.129 , pp. 1165-1176
    • Zhang, H.1    Hu, W.2    Ramirez, F.3
  • 9
    • 0037184979 scopus 로고    scopus 로고
    • Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils
    • Lin G, Tiedemann K, Vollbrandt T, et al.: Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils. J Biol Chem 2002; 277: 50795-50804.
    • (2002) J Biol Chem , vol.277 , pp. 50795-50804
    • Lin, G.1    Tiedemann, K.2    Vollbrandt, T.3
  • 10
    • 0035311574 scopus 로고    scopus 로고
    • Mutation of the gene encoding fibrillin-2 results in syndactyly in mice
    • Chaudhry SS, Gazzard J, Baldock C, et al.: Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Hum Mol Genet 2001; 1: 835-843.
    • (2001) Hum Mol Genet , vol.1 , pp. 835-843
    • Chaudhry, S.S.1    Gazzard, J.2    Baldock, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.