메뉴 건너뛰기




Volumn 119 A, Issue 1, 2003, Pages 57-62

A boy with developmental delay, malformations, and evidence of a connective tissue disorder: Possibly a new type of cutis laxa

Author keywords

Collagen; Developmental delay; EhlersDanlos syndrome; Elastin; Marfan syndrome; Multiple congenital anomalies

Indexed keywords

ELASTIN; PROCOLLAGEN;

EID: 0041821370     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10175     Document Type: Article
Times cited : (3)

References (19)
  • 3
    • 0028291487 scopus 로고
    • Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects (Case report)
    • Biver A, DeRijcke S, Toppet V, Ledoux-Corbusier M, Van Maldergem L. 1994. Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects (Case report). Clin Genet 45:318-322.
    • (1994) Clin Genet , vol.45 , pp. 318-322
    • Biver, A.1    DeRijcke, S.2    Toppet, V.3    Ledoux-Corbusier, M.4    Van Maldergem, L.5
  • 4
    • 0345280772 scopus 로고    scopus 로고
    • Wrinkly skin syndrome: Ultrastructural alterations of the elastic fibers
    • Boente M, Winik B, Asial R. 1999. Wrinkly skin syndrome: Ultrastructural alterations of the elastic fibers. Pediatr Dermat 16:113-117.
    • (1999) Pediatr Dermat , vol.16 , pp. 113-117
    • Boente, M.1    Winik, B.2    Asial, R.3
  • 5
    • 0034304451 scopus 로고    scopus 로고
    • Structural molecules of connective tissue matrices
    • Dell'Orbo C. 2000. Structural molecules of connective tissue matrices. Itali J Anat Embryol 105:51-96.
    • (2000) Itali J Anat Embryol , vol.105 , pp. 51-96
    • Dell'Orbo, C.1
  • 6
    • 0019964535 scopus 로고
    • Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders
    • Holbrood KA, Byers PH. 1982. Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders. J Investigative Derm 79:7s-16s.
    • (1982) J Investigative Derm , vol.79
    • Holbrood, K.A.1    Byers, P.H.2
  • 7
    • 0025086846 scopus 로고
    • The wrinkly skin syndrome: A report of a case and review of the literature
    • Hurvitz SA, Baumgarten A, Goodman RM. 1990. The wrinkly skin syndrome: A report of a case and review of the literature. Clin Genet 38:307-313.
    • (1990) Clin Genet , vol.38 , pp. 307-313
    • Hurvitz, S.A.1    Baumgarten, A.2    Goodman, R.M.3
  • 11
    • 0030955414 scopus 로고    scopus 로고
    • Mutation in fibrillar collagens (Types I, II, III, XI), fibril-associated collagen (Type IX), and network-forming collagen (Type X) cause a spectrum of diseases of bone, cartilage, and blood vessels
    • Kuivaniemi H, Tromp G, Prockop DJ. 1997. Mutation in fibrillar collagens (Types I, II, III, XI), fibril-associated collagen (Type IX), and network-forming collagen (Type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 9:300-315.
    • (1997) Hum Mutat , vol.9 , pp. 300-315
    • Kuivaniemi, H.1    Tromp, G.2    Prockop, D.J.3
  • 12
    • 0022289612 scopus 로고
    • Les elastolyses héréditaires
    • Ledoux-Corbusier. 1985. Les elastolyses héréditaires. Dermatologica 171:407-418.
    • (1985) Dermatologica , vol.171 , pp. 407-418
    • Ledoux-Corbusier1
  • 14
    • 33646208968 scopus 로고    scopus 로고
    • World Wide Web URL: (http://www.oup.co.uk/omd).
  • 15
    • 0040920369 scopus 로고    scopus 로고
    • McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD)
    • Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000.
    • (2000) Online Mendelian Inheritance in Man, OMIM (TM)
  • 16
    • 33646218759 scopus 로고    scopus 로고
    • World Wide Web URL: (http://www.ncbi.nlm.nih.gov/omim/).
  • 17
    • 33646220341 scopus 로고    scopus 로고
    • The Murdoch Institute and the Telemedia Software Labs, Royal Children's Hospital (Melbourne Australia)
    • Pictures of Standardized Syndromes and Undiagnosed Malformations POSSUM (TM). The Murdoch Institute and the Telemedia Software Labs, Royal Children's Hospital (Melbourne Australia), 2000.
    • (2000) Pictures of Standardized Syndromes and Undiagnosed Malformations POSSUM (TM)
  • 18
    • 33646213748 scopus 로고    scopus 로고
    • World Wide Web URL: (http://www.possum.net.au).
  • 19
    • 0033534618 scopus 로고    scopus 로고
    • Cutis laxa arising form frameshift mutatrions in exon 30 of the elastin gene (ELN)
    • Zhang MC, He L, Giro M, Yong SL, Tiller GE, Davidson JM. 1999. Cutis laxa arising form frameshift mutatrions in exon 30 of the elastin gene (ELN). J Biol Chem 274:981-986.
    • (1999) J Biol Chem , vol.274 , pp. 981-986
    • Zhang, M.C.1    He, L.2    Giro, M.3    Yong, S.L.4    Tiller, G.E.5    Davidson, J.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.