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Volumn 29, Issue 6, 2007, Pages 373-376

Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G

Author keywords

Ectodermal defect; Immunodeficiency; Kabuki syndrome; Mental delay; Trichrome vitiligo

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; ECTODERMAL DYSPLASIA; HUMAN; HYPOGAMMAGLOBULINEMIA; IMMUNE DEFICIENCY; KABUKI MAKEUP SYNDROME; MALE; MENTAL DETERIORATION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; SEIZURE; VITILIGO;

EID: 34247621690     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2006.11.004     Document Type: Article
Times cited : (12)

References (14)
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  • 2
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  • 7
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    • Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome
    • Courtens W., Rassart A., Stene J.J., and Vamos E. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. Am J Med Genet 93 (2000) 244-249
    • (2000) Am J Med Genet , vol.93 , pp. 244-249
    • Courtens, W.1    Rassart, A.2    Stene, J.J.3    Vamos, E.4
  • 8
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    • Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature
    • Genevieve D., Amiel J., Viot G., Le Merrer M., Sanlaville D., Urtizberea A., et al. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A 129 (2004) 64-68
    • (2004) Am J Med Genet A , vol.129 , pp. 64-68
    • Genevieve, D.1    Amiel, J.2    Viot, G.3    Le Merrer, M.4    Sanlaville, D.5    Urtizberea, A.6
  • 9
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    • Clinical and histopathologic characteristics of trichrome vitiligo
    • Hann S.K., Kim Y.S., Yoo J.H., and Chun Y.S. Clinical and histopathologic characteristics of trichrome vitiligo. J Am Acad Dermatol 42 (2000) 589-596
    • (2000) J Am Acad Dermatol , vol.42 , pp. 589-596
    • Hann, S.K.1    Kim, Y.S.2    Yoo, J.H.3    Chun, Y.S.4
  • 13
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    • Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome
    • Schoumans J., Nordgren A., Ruivenkamp C., et al. Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. Eur J Hum Genet 13 (2005) 260-263
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  • 14
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    • No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients
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    • Miyake, N.1    Shimokawa, O.2    Harada, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.