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Volumn 161, Issue 7, 2013, Pages 1825-1826

Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures

Author keywords

[No Author keywords available]

Indexed keywords

CORNELIADE LANGE SYNDROME; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; HDAC8 GENE; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; MOSAICISM; NIPBL GENE; PARENT; PRIORITY JOURNAL; RAD21 GENE; RECURRENT DISEASE; SIBLING; SMC1A GENE; SMC3 GENE; VERTICAL TRANSMISSION;

EID: 84879463873     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35988     Document Type: Letter
Times cited : (3)

References (13)
  • 1
    • 0015185764 scopus 로고
    • Familial de Lange syndrome. Report of three cases in a sibship
    • Beratis NG, Hsu LY, Hirschhorn K. 1971. Familial de Lange syndrome. Report of three cases in a sibship. Clin Genet 2:170-176.
    • (1971) Clin Genet , vol.2 , pp. 170-176
    • Beratis, N.G.1    Hsu, L.Y.2    Hirschhorn, K.3
  • 5
    • 0027429307 scopus 로고
    • De Lange syndrome: A clinical review of 310 individuals
    • Jakcson L, Kline AD, Barr MA, Koch S. 1993. De Lange syndrome: A clinical review of 310 individuals. Am J Med Genet 47:940-946.
    • (1993) Am J Med Genet , vol.47 , pp. 940-946
    • Jakcson, L.1    Kline, A.D.2    Barr, M.A.3    Koch, S.4
  • 8
    • 0015621780 scopus 로고
    • Brachmann-de Lange syndrome. Report of two cases in a sibship
    • Lieber E, Glaser JH, Jhaveri R. 1973 Brachmann-de Lange syndrome. Report of two cases in a sibship. Am J Dis Child 125:717-718.
    • (1973) Am J Dis Child , vol.125 , pp. 717-718
    • Lieber, E.1    Glaser, J.H.2    Jhaveri, R.3
  • 12
    • 0035892937 scopus 로고    scopus 로고
    • Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences
    • Russell KL, Ming JE, Patel K, Jukofsky L, Magnusson M, Krantz ID. 2001. Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences. Am J Med Genet 104:267-276.
    • (2001) Am J Med Genet , vol.104 , pp. 267-276
    • Russell, K.L.1    Ming, J.E.2    Patel, K.3    Jukofsky, L.4    Magnusson, M.5    Krantz, I.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.