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Volumn 80, Issue 5, 2011, Pages 493-496

Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?

Author keywords

[No Author keywords available]

Indexed keywords

BODY HEIGHT; BODY MASS; BODY WEIGHT; CASE REPORT; CLINODACTYLY; CODON; CONGENITAL DISORDER; DYSPRAXIA; EXON; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HARDIKAR SYNDROME; HEAD CIRCUMFERENCE; HEPATOBLASTOMA; HUMAN; HYDRAMNIOS; HYDRONEPHROSIS; HYPOPLASIA; JAUNDICE; KABUKI MAKEUP SYNDROME; KARYOTYPE; KYPHOSIS; LETTER; MENARCHE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEWBORN PERIOD; PHOTOTHERAPY; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; RETINA HEMORRHAGE; RETINA PIGMENT DEGENERATION; RETINOPATHY; SPONTANEOUS ABORTION;

EID: 80053489203     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01672.x     Document Type: Letter
Times cited : (3)

References (21)
  • 1
    • 14044272145 scopus 로고    scopus 로고
    • Kabuki syndrome: a review.
    • Adam MP, Hudgins L. Kabuki syndrome: a review. Clin Genet 2005: 67: 209-219.
    • (2005) Clin Genet , vol.67 , pp. 209-219
    • Adam, M.P.1    Hudgins, L.2
  • 2
    • 0030752691 scopus 로고    scopus 로고
    • Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis.
    • Cools F, Jaeken J. Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis. Am J Med Genet 1997: 71: 472-474.
    • (1997) Am J Med Genet , vol.71 , pp. 472-474
    • Cools, F.1    Jaeken, J.2
  • 3
    • 0036628701 scopus 로고    scopus 로고
    • Macular deposits: a new feature of Kabuki syndrome?
    • Elsherbiny S. Macular deposits: a new feature of Kabuki syndrome? J Pediatr Ophthalmol Strabismus 2002: 39: 251-253.
    • (2002) J Pediatr Ophthalmol Strabismus , vol.39 , pp. 251-253
    • Elsherbiny, S.1
  • 4
    • 0031741859 scopus 로고    scopus 로고
    • Severe congenital anomalies requiring transplantation in children with Kabuki syndrome.
    • Ewart-Toland A, Enns G, Cox V, Mohan G, Rosenthal P, Golabi M. Severe congenital anomalies requiring transplantation in children with Kabuki syndrome. Am J Med Genet 1998: 80: 362-367.
    • (1998) Am J Med Genet , vol.80 , pp. 362-367
    • Ewart-Toland, A.1    Enns, G.2    Cox, V.3    Mohan, G.4    Rosenthal, P.5    Golabi, M.6
  • 5
    • 0026669397 scopus 로고
    • Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome?
    • Hardikar W, Smith AL, Keith CG, Chow CW. Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: a new syndrome? Am J Med Genet 1992: 44: 13-17.
    • (1992) Am J Med Genet , vol.44 , pp. 13-17
    • Hardikar, W.1    Smith, A.L.2    Keith, C.G.3    Chow, C.W.4
  • 7
    • 0019837311 scopus 로고
    • 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
  • 11
    • 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: 249-252.
    • (2003) Am J Med Genet A , vol.123 , pp. 249-252
    • Ming, J.E.1    Russell, K.L.2    Bason, L.3    McDonald-McGinn, D.M.4    Zackai, E.H.5
  • 12
    • 77956642100 scopus 로고    scopus 로고
    • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
    • Ng SB, Bigham AW, Buckingham KJ et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010: 42: 790-793.
    • (2010) Nat Genet , vol.42 , pp. 790-793
    • Ng, S.B.1    Bigham, A.W.2    Buckingham, K.J.3
  • 13
    • 0019850335 scopus 로고
    • Kabuki make-up 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 make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal 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
  • 14
    • 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
  • 17
    • 79551505871 scopus 로고    scopus 로고
    • MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
    • Paulussen ADC, Stegmann APA, Blok MJ et al. MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mut 2011: 32: E2018-E2025.
    • (2011) Hum Mut , vol.32
    • Paulussen, A.D.C.1    Stegmann, A.P.A.2    Blok, M.J.3
  • 18
    • 55449109128 scopus 로고    scopus 로고
    • Hardikar syndrome: new features.
    • Poley JR, Proud VK. Hardikar syndrome: new features. Am J Med Genet A 2008: 146A: 2473-2479.
    • (2008) Am J Med Genet A , vol.146 , pp. 2473-2479
    • Poley, J.R.1    Proud, V.K.2
  • 20
    • 77952764681 scopus 로고    scopus 로고
    • Kabuki syndrome and cancer in two patients.
    • Tumino M, Licciardello M, Sorge G et al. Kabuki syndrome and cancer in two patients. Am J Med Genet A 2010: 152A: 1536-1539.
    • (2010) Am J Med Genet A , vol.152 , pp. 1536-1539
    • Tumino, M.1    Licciardello, M.2    Sorge, G.3
  • 21
    • 0033836050 scopus 로고    scopus 로고
    • Unexpected life-threatening complications in Kabuki syndrome.
    • van Haelst M, Brooks A, Hoogeboom J et al. Unexpected life-threatening complications in Kabuki syndrome. Am J Med Genet 2000: 94: 170-173.
    • (2000) Am J Med Genet , vol.94 , pp. 170-173
    • van Haelst, M.1    Brooks, A.2    Hoogeboom, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.