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Volumn 140 A, Issue 9, 2006, Pages 1013-1015

Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ANTERIOR SPINE FUSION; ARTICLE; CHROMOSOME 5P; CHROMOSOME 8Q; CHROMOSOME TRANSLOCATION 5; CHROMOSOME TRANSLOCATION 8; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; HUMAN; KARYOTYPE; KLIPPEL FEIL SYNDROME; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 33646111208     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31198     Document Type: Article
Times cited : (19)

References (5)
  • 1
    • 0028807451 scopus 로고
    • Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3)
    • Clarke RA, Singh S, McKenzie H, Kearsley JH, Yip MY. 1995. Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). Am J Hum Genet 57:1364-1370.
    • (1995) Am J Hum Genet , vol.57 , pp. 1364-1370
    • Clarke, R.A.1    Singh, S.2    McKenzie, H.3    Kearsley, J.H.4    Yip, M.Y.5
  • 2
    • 0029076464 scopus 로고
    • De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly
    • Fukushima Y, Ohashi H, Wakui K, Nishimoto H, Sato M, Aihara T. 1995. De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly. Am J Med Genet 57:447-449.
    • (1995) Am J Med Genet , vol.57 , pp. 447-449
    • Fukushima, Y.1    Ohashi, H.2    Wakui, K.3    Nishimoto, H.4    Sato, M.5    Aihara, T.6
  • 3
    • 0014155719 scopus 로고
    • The Klippel-Feil syndrome: Genetic and clinical reevaluation of cervical fusion
    • Gunderson CH, Greenspan RH, Glaser GH, Lubs HA. 1967. The Klippel-Feil syndrome: Genetic and clinical reevaluation of cervical fusion. Medicine 46:491-512.
    • (1967) Medicine , vol.46 , pp. 491-512
    • Gunderson, C.H.1    Greenspan, R.H.2    Glaser, G.H.3    Lubs, H.A.4
  • 5
    • 3042740450 scopus 로고    scopus 로고
    • Klippel-Feil syndrome: Clinical features and current understanding of etiology
    • Tracy MR, Dormans JP, Kusumi K. 2004. Klippel-Feil syndrome: Clinical features and current understanding of etiology. Clin Orthop Relat Res 424:183-190.
    • (2004) Clin Orthop Relat Res , vol.424 , pp. 183-190
    • Tracy, M.R.1    Dormans, J.P.2    Kusumi, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.