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Volumn 146, Issue 22, 2008, Pages 2916-2919

Sib pair with previously unreported skeletal dysplasia

Author keywords

Chondrodysplasia; Delayed bone age; Platyspondyly; Short stature

Indexed keywords

ARTICLE; BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CHILD; CHONDRODYSPLASIA; DIFFERENTIAL DIAGNOSIS; FAMILY STUDY; FEMALE; HUMAN; LEBANON; MALE; PRIORITY JOURNAL; SHORT STATURE; SIBLING;

EID: 56049122741     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32540     Document Type: Article
Times cited : (11)

References (7)
  • 1
    • 0027476350 scopus 로고
    • Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology
    • Borochowitz Z, Langer LO Jr, Gruber HE, Lachman R, Katznelson MB, Rimoin DL. 1993. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology. Am J Med Genet 45:320-326.
    • (1993) Am J Med Genet , vol.45 , pp. 320-326
    • Borochowitz, Z.1    Langer Jr, L.O.2    Gruber, H.E.3    Lachman, R.4    Katznelson, M.B.5    Rimoin, D.L.6
  • 4
    • 0032513571 scopus 로고    scopus 로고
    • Spondylometaphyseal dysplasia-Sedaghatian type
    • Elcioglu N, Hall CM. 1998. Spondylometaphyseal dysplasia-Sedaghatian type. Am J Med Genet 76:410-414.
    • (1998) Am J Med Genet , vol.76 , pp. 410-414
    • Elcioglu, N.1    Hall, C.M.2
  • 5
    • 0025793603 scopus 로고
    • Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta
    • Goldblatt J, Carman P, Sprague P. 1991. Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta. Am J Med Genet 39:170-172.
    • (1991) Am J Med Genet , vol.39 , pp. 170-172
    • Goldblatt, J.1    Carman, P.2    Sprague, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.