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Volumn 41, Issue 1, 1999, Pages 107-111

Two siblings with Bloom's syndrome exhibit different clinical features: Possible effect of sex

Author keywords

Bloom's syndrome; Clinical heterogeneity; Sex effect; Sun sensitive lesions

Indexed keywords

ARTICLE; BIOPSY; BLOOM SYNDROME; CASE REPORT; CHILD; CONSANGUINITY; DIFFERENTIAL DIAGNOSIS; FEMALE; GENETIC HETEROGENEITY; GENETICS; HUMAN; MALE; MUTATION; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; ROTHMUND THOMSON SYNDROME; SEXUAL DEVELOPMENT;

EID: 0032600597     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (13)
  • 1
    • 0028831333 scopus 로고
    • Genodermatoses with malignant potential: Bloom syndrome
    • German J. Genodermatoses with malignant potential: Bloom syndrome. Dermatol Clin 1995; 13: 7-18.
    • (1995) Dermatol Clin , vol.13 , pp. 7-18
    • German, J.1
  • 2
    • 84944972302 scopus 로고
    • Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs
    • Bloom D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Am J Dis Child 1954; 88: 754-758.
    • (1954) Am J Dis Child , vol.88 , pp. 754-758
    • Bloom, D.1
  • 3
    • 0024591985 scopus 로고
    • Bloom's syndrome XII. Report from the Registry for 1987
    • German J, Passarge E. Bloom's syndrome XII. Report from the Registry for 1987. Clin Genet 1989; 35: 57-69.
    • (1989) Clin Genet , vol.35 , pp. 57-69
    • German, J.1    Passarge, E.2
  • 4
    • 0021365694 scopus 로고
    • Bloom's syndrome XI. Progress report for 1983
    • German J, Bloom D, Passarge E. Bloom's syndrome XI. Progress report for 1983. Clin Genet 1984; 25: 166-174.
    • (1984) Clin Genet , vol.25 , pp. 166-174
    • German, J.1    Bloom, D.2    Passarge, E.3
  • 5
    • 0024539277 scopus 로고
    • Bloom's syndrome. XIV. The disorder in Japan
    • German J, Takebe H. Bloom's syndrome. XIV. The disorder in Japan. Clin Genet 1989; 35: 93-110.
    • (1989) Clin Genet , vol.35 , pp. 93-110
    • German, J.1    Takebe, H.2
  • 6
    • 0017705228 scopus 로고
    • Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim
    • German J, Bloom D, Passarge E, et al. Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim. Am J Hum Genet 1977; 29: 553-562.
    • (1977) Am J Hum Genet , vol.29 , pp. 553-562
    • German, J.1    Bloom, D.2    Passarge, E.3
  • 7
    • 0023943610 scopus 로고
    • Bloom syndrome: A single complementation group defines patients of diverse ethnic origin
    • Weksberg R, Smith C, Anson-Cartwright L, Maloney K. Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. Am J Hum Genet 1988; 42: 816-824.
    • (1988) Am J Hum Genet , vol.42 , pp. 816-824
    • Weksberg, R.1    Smith, C.2    Anson-Cartwright, L.3    Maloney, K.4
  • 8
    • 0028355717 scopus 로고
    • Bloom syndrome: An analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1
    • German J, Roe AM, Leppert MF, Ellis NA. Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. Proc Natl Acad Sci 1994; 91: 6669-6673.
    • (1994) Proc Natl Acad Sci , vol.91 , pp. 6669-6673
    • German, J.1    Roe, A.M.2    Leppert, M.F.3    Ellis, N.A.4
  • 9
    • 0001916428 scopus 로고
    • Congenital diseases (genodermatoses)
    • Lever WF (ed). Philadelphia: JB Lippincott Co
    • th ed). Philadelphia: JB Lippincott Co; 1990: 65-102.
    • (1990) th Ed) , pp. 65-102
    • Groden, J.1
  • 10
    • 0028859379 scopus 로고
    • Somatic intragenic recombination within the mutated locus BLM can correct the high SCE phenotype of Bloom syndrome cells
    • Ellis NA, Lennon DJ, Proytcheva M, et al. Somatic intragenic recombination within the mutated locus BLM can correct the high SCE phenotype of Bloom syndrome cells. Am J Hum Genet 1995; 57: 1019-1027.
    • (1995) Am J Hum Genet , vol.57 , pp. 1019-1027
    • Ellis, N.A.1    Lennon, D.J.2    Proytcheva, M.3
  • 11
    • 0017748038 scopus 로고
    • Bloom's syndrome. IV. Sister chromatid exchange in lymphocytes
    • German J, Schonberg S, Louie E, Chaganti RS. Bloom's syndrome. IV. Sister chromatid exchange in lymphocytes. Am J Hum Genet 1977; 29: 248-255.
    • (1977) Am J Hum Genet , vol.29 , pp. 248-255
    • German, J.1    Schonberg, S.2    Louie, E.3    Chaganti, R.S.4
  • 12
    • 0001542940 scopus 로고
    • Chromosomal breakage in a rare and probably genetically determined syndrome of man
    • German J, Archibald R, Bloom D. Chromosomal breakage in a rare and probably genetically determined syndrome of man. Science 1965; 148: 506-507.
    • (1965) Science , vol.148 , pp. 506-507
    • German, J.1    Archibald, R.2    Bloom, D.3
  • 13
    • 0040920369 scopus 로고    scopus 로고
    • Baltimore: Johns Hopkins University, MD. MIM Number: 210900:8/22
    • Online Mendelian Inheritance in Man, OMIM (TM). Baltimore: Johns Hopkins University, MD. MIM Number: 210900:8/22/1996.
    • (1996) Online Mendelian Inheritance in Man, OMIM (TM)


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.