메뉴 건너뛰기




Volumn 72, Issue 5, 2013, Pages 341-343

Kabuki Syndrome: A case report with severe ocular abnormalities

Author keywords

Case reports; Coloboma; Congenital disorders; Glaucoma; Strabismus

Indexed keywords


EID: 84888099236     PISSN: 00347280     EISSN: 19828551     Source Type: Journal    
DOI: 10.1590/S0034-72802013000500013     Document Type: Article
Times cited : (4)

References (12)
  • 1
    • 0019850335 scopus 로고
    • Kabuki makeup syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
    • Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki makeup syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr. 1981;99(4):565-9.
    • (1981) J Pediatr. , vol.99 , Issue.4 , pp. 565-9
    • Niikawa, N.1    Matsuura, N.2    Fukushima, Y.3    Ohsawa, T.4    Kajii, T.5
  • 7
    • 0033863137 scopus 로고    scopus 로고
    • Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features
    • Kluijt I, van Dorp DB, Kwee ML, Toutain A, Keppler-Noreuil K, Warburg M, et al. Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features. Ophthalmic Genet. 2000;21(1):51-61.
    • (2000) Ophthalmic Genet. , vol.21 , Issue.1 , pp. 51-61
    • Kluijt, I.1    van Dorp, D.B.2    Kwee, M.L.3    Toutain, A.4    Keppler-Noreuil, K.5    Warburg, M.6
  • 8
    • 67650650977 scopus 로고    scopus 로고
    • New fundus findings in a case of Kabuki syndrome
    • Chuah JL, Chuah JK, Brown R. New fundus findings in a case of Kabuki syndrome. Eye (Lond). 2009;23(6):1483-5.
    • (2009) Eye (Lond). , vol.23 , Issue.6 , pp. 1483-5
    • Chuah, J.L.1    Chuah, J.K.2    Brown, R.3
  • 9
    • 3343007088 scopus 로고    scopus 로고
    • Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature
    • Geneviève 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. 2004;129A(1):64-8.
    • (2004) Am J Med Genet A. , vol.129 A , Issue.1 , pp. 64-8
    • Geneviève, D.1    Amiel, J.2    Viot, G.3    Le Merrer, M.4    Sanlaville, D.5    Urtizberea, A.6
  • 10
    • 0344896684 scopus 로고    scopus 로고
    • Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association
    • Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH. Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. Am J Med Genet A. 2003;123A(3):249-52.
    • (2003) Am J Med Genet A. , vol.123 A , Issue.3 , pp. 249-52
    • Ming, J.E.1    Russell, K.L.2    Bason, L.3    McDonald-McGinn, D.M.4    Zackai, E.H.5
  • 11
    • 47749146577 scopus 로고    scopus 로고
    • Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia
    • Chaudhry IA, Shamsi FA, Alkuraya HS, Al-Sharif A. Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia. Int Ophthalmol. 2008;28(2):131-4.
    • (2008) Int Ophthalmol. , vol.28 , Issue.2 , pp. 131-4
    • Chaudhry, I.A.1    Shamsi, F.A.2    Alkuraya, H.S.3    Al-Sharif, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.