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Volumn 140, Issue 13, 2006, Pages 1487-1489

Keutel syndrome with overlapping features of cutis laxa: A new variant [3]

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; CUTIS LAXA; ELECTRON MICROSCOPY; GENE; GENE MUTATION; GENETIC SCREENING; HISTOPATHOLOGY; HUMAN; KEUTEL SYNDROME; LETTER; MGP GENE; PRIORITY JOURNAL; RASH; SKIN ATROPHY; SKIN BIOPSY; STAINING;

EID: 33745600164     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31234     Document Type: Letter
Times cited : (14)

References (11)
  • 1
    • 0025029949 scopus 로고
    • Molecular structure, chromosome assignment, and promoter organization of the human matrix gla protein gene
    • Cancela L, Hsieh CL, Francke U, Price PA. 1990. Molecular structure, chromosome assignment, and promoter organization of the human matrix gla protein gene. J Biol Chem 265:15040-15048.
    • (1990) J Biol Chem , vol.265 , pp. 15040-15048
    • Cancela, L.1    Hsieh, C.L.2    Francke, U.3    Price, P.A.4
  • 3
    • 18244394309 scopus 로고    scopus 로고
    • A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome
    • Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA. 2005. A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome. Am J Med Genet Part A 135A:36-40.
    • (2005) Am J Med Genet Part A , vol.135 A , pp. 36-40
    • Hur, D.J.1    Raymond, G.V.2    Kahler, S.G.3    Riegert-Johnson, D.L.4    Cohen, B.A.5
  • 7
    • 3242771543 scopus 로고    scopus 로고
    • What syndrome is this? Autosomal recessive type II cutis laxa
    • Nanda A, Lionel J, Al-Tawari A, Anim JT. 2004. What syndrome is this? Autosomal recessive type II cutis laxa. Pediatr Dermatol 21:166-169.
    • (2004) Pediatr Dermatol , vol.21 , pp. 166-169
    • Nanda, A.1    Lionel, J.2    Al-Tawari, A.3    Anim, J.T.4
  • 8
    • 0038793696 scopus 로고    scopus 로고
    • Mid-dermal elastolysis: A clinical histologic, and immunohistochemical study of 11 patients
    • Patroi I, Annessi G, Girolomoni G. 2003. Mid-dermal elastolysis: A clinical histologic, and immunohistochemical study of 11 patients. J Am Acad Dermatol 48:846-851.
    • (2003) J Am Acad Dermatol , vol.48 , pp. 846-851
    • Patroi, I.1    Annessi, G.2    Girolomoni, G.3
  • 10
    • 0027324898 scopus 로고
    • The clinical spectrum of mid-dermal elastolysis and the role of UV light in its pathogenesis
    • Snider RL, Lang PG, Maize JC. 1993. The clinical spectrum of mid-dermal elastolysis and the role of UV light in its pathogenesis. J Am Acad Dermatol 28:938-942.
    • (1993) J Am Acad Dermatol , vol.28 , pp. 938-942
    • Snider, R.L.1    Lang, P.G.2    Maize, J.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.