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Volumn 53, Issue 4, 1998, Pages 308-312

Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency

Author keywords

Chromosome 22q11.2 deletion; Immunodeficiency; Kabuki syndrome; Niikawa Kuroki syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 22Q; DIGEORGE SYNDROME; DISEASE ASSOCIATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; IMMUNE DEFICIENCY; KABUKI MAKEUP SYNDROME; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL;

EID: 0031979459     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02702.x     Document Type: Article
Times cited : (43)

References (14)
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    • Niikawa, N.1    Matsuura, N.2    Fukushima, Y.3    Ohsawa, T.4    Kajii, T.5
  • 2
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    • A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation
    • Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981: 99: 570-573.
    • (1981) J Pediatr , vol.99 , pp. 570-573
    • Kuroki, Y.1    Suzuki, Y.2    Chyo, H.3    Hata, A.4    Matsui, I.5
  • 6
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    • Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: The new observations
    • Ilyina H, Lurie I, Numtchik I, Amoashy D, Stephanenko G, Fedotov V, Kostjuk A, Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: the new observations. Am J Med Genet 1995: 56: 127-131.
    • (1995) Am J Med Genet , vol.56 , pp. 127-131
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  • 7
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    • Coarctation of the aorta in Kabuki syndrome
    • Hughes HE, Davies SJ. Coarctation of the aorta in Kabuki syndrome. Am J Hum Genet 1993: [Suppl.] 53: 54.
    • (1993) Am J Hum Genet , vol.53 , Issue.SUPPL. , pp. 54
    • Hughes, H.E.1    Davies, S.J.2
  • 8
    • 0028814317 scopus 로고
    • Kabuki syndrome: Underdiagnosed recognizable pattern in cleft palate patients
    • Burke LW, Jones MC. Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. Cleft Palate Craniofac J 1995: 32: 77-84.
    • (1995) Cleft Palate Craniofac J , vol.32 , pp. 77-84
    • Burke, L.W.1    Jones, M.C.2
  • 9
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    • Kabuki make up syndrome: Extending the phenotype to include immunological disease, and persistent hypoglycemia
    • Bay CA, Wegner K, Mang J, Barudi M, Ayas M, Saalouke M. Kabuki make up syndrome: extending the phenotype to include immunological disease, and persistent hypoglycemia. Proc Greewood Genet Center 1994: 13: 92-93.
    • (1994) Proc Greewood Genet Center , vol.13 , pp. 92-93
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  • 10
    • 0025185199 scopus 로고
    • The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child
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    • (1990) Clin Genet , vol.38 , pp. 348-381
    • Gillis, R.1    Klar, A.2    Gross-Kieselstein, E.3
  • 12
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    • Deficiency of CD4 + CD45R + T lymphocytes in common variable immunodeficiency
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  • 13
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    • Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2
    • Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2. Am J Med Genet 1996: 65: 101-103.
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  • 14
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    • Fryburg, J.S.1    Lin, K.Y.2    Golden, W.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.