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Volumn 39, Issue 4, 2002, Pages 251-253

Macular deposits: A new feature of Kabuki syndrome?

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; HUMAN; KABUKI MAKEUP SYNDROME; MALE; PRESCHOOL CHILD; RETINA MACULOPATHY; VISUAL ACUITY; CHILD; CONGENITAL MALFORMATION; EYE FUNDUS; FACIES; GENETICS; GROWTH DISORDER; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; RETINA MACULA LUTEA; SYNDROME;

EID: 0036628701     PISSN: 01913913     EISSN: None     Source Type: Journal    
DOI: 10.3928/0191-3913-20020701-18     Document Type: Article
Times cited : (7)

References (13)
  • 1
    • 0019837311 scopus 로고
    • A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, skeletal anomalies associated with post-natal 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, skeletal anomalies associated with post-natal 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
  • 2
    • 0019850335 scopus 로고
    • Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears and post-natal growth deficiency
    • Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears and post-natal growth deficiency. J Pediatr. 1981;99:565-569.
    • (1981) J Pediatr , vol.99 , pp. 565-569
    • Niikawa, N.1    Matsuura, N.2    Fukushima, Y.3    Ohsawa, T.4    Kajii, T.5
  • 3
    • 0023696864 scopus 로고
    • Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients
    • Niikawa N, Kuroki Y, Kajii T, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet. 1988;31:565-589.
    • (1988) Am J Med Genet , vol.31 , pp. 565-589
    • Niikawa, N.1    Kuroki, Y.2    Kajii, T.3
  • 5
    • 0024708846 scopus 로고
    • Kabuki make-up syndrome (Niikawa-Kuroki syndrome) in a black child
    • Pe Benito R, Ferreti C. Kabuki make-up syndrome (Niikawa-Kuroki syndrome) in a black child. Ann Ophthalmol. 1989;21:312-315.
    • (1989) Ann Ophthalmol , vol.21 , pp. 312-315
    • Pe Benito, R.1    Ferreti, C.2
  • 7
    • 0033504485 scopus 로고    scopus 로고
    • Phenotypic spectrum and management issues in Kabuki syndrome
    • Kawame H, Hannibal MC, Hudgins L, Pagon RA. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr. 1999;134:480-485.
    • (1999) J Pediatr , vol.134 , pp. 480-485
    • Kawame, H.1    Hannibal, M.C.2    Hudgins, L.3    Pagon, R.A.4
  • 10
    • 0031870148 scopus 로고    scopus 로고
    • Kabuki make-up syndrome and report of a case with hydrocephalus
    • Kasuya H, Shimizu T, Nakamura S, Takakura K. Kabuki make-up syndrome and report of a case with hydrocephalus. Childs Nerv Syst. 1998;14:230-235.
    • (1998) Childs Nerv Syst , vol.14 , pp. 230-235
    • Kasuya, H.1    Shimizu, T.2    Nakamura, S.3    Takakura, K.4
  • 12
    • 0024450684 scopus 로고
    • Autosomal dominant inheritance of Kabuki make-up syndrome
    • Halal F, Gledhill R, Dudkiewicz A. Autosomal dominant inheritance of Kabuki make-up syndrome. Am J Med Genet. 1989;33:376-381.
    • (1989) Am J Med Genet , vol.33 , pp. 376-381
    • Halal, F.1    Gledhill, R.2    Dudkiewicz, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.