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American Journal of Medical Genetics
Volumn 119 A, Issue 3, 2003, Pages 386-390
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)
Author keywords

Joint laxity; Spondyloepimetaphyseal dysplasia
Indexed keywords

ADULT; ARTICLE; BONE DYSPLASIA; BONE GRAFT; BONE RADIOGRAPHY; BRACE; CASE REPORT; CERVICAL MYELOPATHY; DIAGNOSTIC ACCURACY; DISLOCATION; FEMALE; FOLLOW UP; FRACTURE REDUCTION; HUMAN; JOINT LAXITY; KYPHOSIS; METAPHYSIS; OSTEOTOMY; PRIORITY JOURNAL; SCOLIOSIS; SPINE FUSION; SPINE MALFORMATION; SURVIVAL; TREATMENT OUTCOME;
EID: 0042823622     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20061     Document Type: Article
Times cited : (9)
References (10)
  • 1
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    • Beighton P. 1994. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). J Med Genet 31:136-140.
    • (1994) J Med Genet , vol.31 , pp. 136-140
    • Beighton, P.1
  • 2
    • 0018971248 scopus 로고
    • Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis
    • Beighton P, Kozlowski K. 1980. Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. Skeletal Radiol 5: 205-212.
    • (1980) Skeletal Radiol , vol.5 , pp. 205-212
    • Beighton, P.1    Kozlowski, K.2
  • 3
    • 0021078362 scopus 로고
    • Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis
    • Beighton P, Kozlowski K, Gericke G, Wallis G, Grobler L. 1983. Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. S Afr Med J 64:772-775.
    • (1983) S Afr Med J , vol.64 , pp. 772-775
    • Beighton, P.1    Kozlowski, K.2    Gericke, G.3    Wallis, G.4    Grobler, L.5
  • 4
    • 0021146396 scopus 로고
    • The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity
    • Beighton P, Gericke G, Kozlowski K, Grobler L. 1984. The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. Clin Genet 26:308-317.
    • (1984) Clin Genet , vol.26 , pp. 308-317
    • Beighton, P.1    Gericke, G.2    Kozlowski, K.3    Grobler, L.4
  • 5
    • 0028807458 scopus 로고
    • Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): Clinical and radiological findings in a Guatemalan patient
    • Bradburn J, Hall B. 1995. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): Clinical and radiological findings in a Guatemalan patient. Am J Med Genet 59:234-237.
    • (1995) Am J Med Genet , vol.59 , pp. 234-237
    • Bradburn, J.1    Hall, B.2
  • 6
    • 0021634658 scopus 로고
    • Radiographic features of spondylo-epi-metaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases
    • Kozlowski K, Beighton P. 1984. Radiographic features of spondylo-epi-metaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. Rofo Fortschr Geb Rontgenstr Nuklearmed 141:337-341.
    • (1984) Rofo Fortschr Geb Rontgenstr Nuklearmed , vol.141 , pp. 337-341
    • Kozlowski, K.1    Beighton, P.2
  • 7
    • 0030058201 scopus 로고    scopus 로고
    • Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): A Brazilian case
    • Pina-Neto JM, Defino HL, Guedes ML, Jorge SM. 1996. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): A Brazilian case. Am J Med Genet 61:131-133.
    • (1996) Am J Med Genet , vol.61 , pp. 131-133
    • Pina-Neto, J.M.1    Defino, H.L.2    Guedes, M.L.3    Jorge, S.M.4
  • 8
    • 0032855817 scopus 로고    scopus 로고
    • Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): Presentation in two unrelated patients in the United States
    • Smith W, Ji HP, Mouradian W, Pagon RA. 1999. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): Presentation in two unrelated patients in the United States. Am J Med Genet 86:245-252.
    • (1999) Am J Med Genet , vol.86 , pp. 245-252
    • Smith, W.1    Ji, H.P.2    Mouradian, W.3    Pagon, R.A.4
  • 9
    • 0026078761 scopus 로고
    • The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa
    • Torrington M, Beighton P. 1991. The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa. Clin Genet 39: 210-213.
    • (1991) Clin Genet , vol.39 , pp. 210-213
    • Torrington, M.1    Beighton, P.2
  • 10
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    • Spine deformity in spondyloepimetaphyseal dysplasia
    • Winter RB, Bloom B. 1990. Spine deformity in spondyloepimetaphyseal dysplasia. J Pediatr Orthop 10:535-539.
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    • Winter, R.B.1    Bloom, B.2

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.