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Volumn 119 A, Issue 3, 2003, Pages 363-366

Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome

Author keywords

Lujan Fryns; Terminal 5p deletion

Indexed keywords

METHYLPHENIDATE;

EID: 0041320945     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10268     Document Type: Article
Times cited : (16)

References (10)
  • 1
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    • Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features
    • Church DM, Bengtsson U, Nielson KV, Wasmuth JJ, Niebuhr E. 1995. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet 56:1162-1172.
    • (1995) Am J Hum Genet , vol.56 , pp. 1162-1172
    • Church, D.M.1    Bengtsson, U.2    Nielson, K.V.3    Wasmuth, J.J.4    Niebuhr, E.5
  • 4
    • 0026008095 scopus 로고
    • X-linked mental retardation with Marfanoid habitus (Letter to the Editor)
    • Fryns JP. 1991. X-linked mental retardation with Marfanoid habitus (Letter to the Editor). Am J Med Genet 38:233.
    • (1991) Am J Med Genet , vol.38 , pp. 233
    • Fryns, J.P.1
  • 5
    • 0023470783 scopus 로고
    • X-linked mental retardation with Marfanoid habitus
    • Fryns JP, Buttiens M. 1987. X-linked mental retardation with Marfanoid habitus. Am J Med Genet 28:267-274.
    • (1987) Am J Med Genet , vol.28 , pp. 267-274
    • Fryns, J.P.1    Buttiens, M.2
  • 6
    • 0027488927 scopus 로고
    • Lujan-Fryns syndrome (X-linked mental retardation with Marfanoid habitus): Report of three cases and review
    • Lacombe D, Bonneau D, Verloes A, Couet D, Koulischer L, Battin J. 1993. Lujan-Fryns syndrome (X-linked mental retardation with Marfanoid habitus): Report of three cases and review. Genet Couns 4:193-198.
    • (1993) Genet Couns , vol.4 , pp. 193-198
    • Lacombe, D.1    Bonneau, D.2    Verloes, A.3    Couet, D.4    Koulischer, L.5    Battin, J.6
  • 7
    • 0021357699 scopus 로고
    • A form of X-linked mental retardation with Marfanoid habitus
    • Lujan JE, Carlin ME, Lubs HA. 1984. A form of X-linked mental retardation with Marfanoid habitus. Am J Med Genet 17:311-322.
    • (1984) Am J Med Genet , vol.17 , pp. 311-322
    • Lujan, J.E.1    Carlin, M.E.2    Lubs, H.A.3
  • 8
    • 16044371402 scopus 로고    scopus 로고
    • A complete set of human telomeric probes and their clinical application
    • National Institutes of Health and Institute of Molecular Medicine Collaboration. 1996. A complete set of human telomeric probes and their clinical application. Nat Genet 14:86-89.
    • (1996) Nat Genet , vol.14 , pp. 86-89
  • 9
    • 0028054658 scopus 로고
    • Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the cri-du-chat syndrome
    • Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meye M, Wasmuth JJ. 1994. Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet 3:247-252.
    • (1994) Hum Mol Genet , vol.3 , pp. 247-252
    • Overhauser, J.1    Huang, X.2    Gersh, M.3    Wilson, W.4    McMahon, J.5    Bengtsson, U.6    Rojas, K.7    Meye, M.8    Wasmuth, J.J.9
  • 10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.