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Volumn 136, Issue 3, 2000, Pages 390-393

Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN MALFORMATION; CASE REPORT; DYSKERATOSIS CONGENITA; HOYERAAL HREIDARSSON SYNDROME; HUMAN; INTRAUTERINE GROWTH RETARDATION; LEUKOPLAKIA; MALE; MENTAL DEFICIENCY; MICROCEPHALY; NAIL DYSTROPHY; PANCYTOPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN ULCER;

EID: 0033929321     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2000.104295     Document Type: Article
Times cited : (74)

References (13)
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  • 2
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    • X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
    • 2. Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Weimann S, Mason PJ, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nature Genet 1998;19:32-8.
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    • Heiss, N.S.1    Knight, S.W.2    Vulliamy, T.J.3    Klauck, S.M.4    Weimann, S.5    Mason, P.J.6
  • 4
    • 0033362103 scopus 로고    scopus 로고
    • X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC 1 gene
    • 4. Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC 1 gene. Am J Hum Genet 1999;65:50-8.
    • (1999) Am J Hum Genet , vol.65 , pp. 50-58
    • Knight, S.W.1    Heiss, N.S.2    Vulliamy, T.J.3    Greschner, S.4    Stavrides, G.5    Pai, G.S.6
  • 5
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    • Etiologic heterogeneity in dyskeratosis congenita
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    • (1989) Am J Med Genet , vol.32 , pp. 63-66
    • Pai, G.S.1    Morgan, S.2    Whetsell, C.3
  • 7
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    • Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers
    • 7. Hoyeraal HM, Lamvik J, Moe PJ. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand 1970;59:185-91.
    • (1970) Acta Paediatr Scand , vol.59 , pp. 185-191
    • Hoyeraal, H.M.1    Lamvik, J.2    Moe, P.J.3
  • 8
    • 0023731072 scopus 로고
    • A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure
    • 8. Hreidarsson S, Kristjansson K, Johannesson G, Johannsson JH. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. Acta Paediatr Scand 1988;77:773-5.
    • (1988) Acta Paediatr Scand , vol.77 , pp. 773-775
    • Hreidarsson, S.1    Kristjansson, K.2    Johannesson, G.3    Johannsson, J.H.4
  • 9
    • 0028916022 scopus 로고
    • The Hoyeraal-Hreidarsson syndrome: The fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia
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    • (1995) Eur J Pediatr , vol.154 , pp. 304-308
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    • Revesz, T.1    Fletcher, S.2    Al-Gazali, L.I.3    DeBuse, P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.