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Volumn 34, Issue 6, 2006, Pages 478-480

Quadrigeminal Cistern Arachnoid Cyst in a Patient With Kabuki Syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN ARACHNOID CYST; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CLINICAL FEATURE; DERMATOGLYPHICS; FACIES; GROWTH RETARDATION; HUMAN; KABUKI MAKEUP SYNDROME; LITERATURE; MALE; MENTAL DEFICIENCY; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SKELETON MALFORMATION;

EID: 33744817900     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2005.11.006     Document Type: Article
Times cited : (11)

References (12)
  • 1
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    • Unmasking Kabuki syndrome. Chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH
    • Milunsky J.M., and Huang X.L. Unmasking Kabuki syndrome. Chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genetic 64 (2003) 509
    • (2003) Clin Genetic , vol.64 , pp. 509
    • Milunsky, J.M.1    Huang, X.L.2
  • 2
    • 33744801724 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM): http://www.ncbi.nlm.gov/OMIM/. Kabuki syndrome, MIM %147920. Center for Medical Genetics, Johns Hopkins University, Baltimore, MD, and the National Center for Biotechnology Information, National Library of Medicine, Bethesda, MD.
  • 3
    • 0019850335 scopus 로고
    • Kabuki make-up syndrome. A syndrome with mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
    • Niikawa N., Matsuura N., Fukushima T., Ohsawa T., and Kaljii T. Kabuki make-up syndrome. A syndrome with mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99 (1981) 565-569
    • (1981) J Pediatr , vol.99 , pp. 565-569
    • Niikawa, N.1    Matsuura, N.2    Fukushima, T.3    Ohsawa, T.4    Kaljii, T.5
  • 4
    • 33744788917 scopus 로고    scopus 로고
    • London Dysmorphology Database (version 1.0)
    • Winter R., and Baraitzer M. (Eds), London Dysmorphology Database, London
    • London Dysmorphology Database (version 1.0). In: Winter R., and Baraitzer M. (Eds). London Medical Database. (2003), London Dysmorphology Database, London
    • (2003) London Medical Database.
  • 6
    • 0344037068 scopus 로고    scopus 로고
    • Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome
    • Powell H.W.R., Hart P.E., and Sisodiya S.M. Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. Dev Med Child Neurol 45 (2003) 841-843
    • (2003) Dev Med Child Neurol , vol.45 , pp. 841-843
    • Powell, H.W.R.1    Hart, P.E.2    Sisodiya, S.M.3
  • 7
    • 0023696864 scopus 로고
    • Kabuki make-up (Niikawa-Kuroki) syndrome. A study of 62 patients
    • Niikawa N., Kuroki Y., Kaljii T., et al. Kabuki make-up (Niikawa-Kuroki) syndrome. A study of 62 patients. Am J Med Genet 31 (1988) 565-589
    • (1988) Am J Med Genet , vol.31 , pp. 565-589
    • Niikawa, N.1    Kuroki, Y.2    Kaljii, T.3
  • 10
    • 0030868987 scopus 로고    scopus 로고
    • CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome
    • Chu D.C., Finley S.C., Young D.W., and Proud V.K. CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet 72 (1997) 205-209
    • (1997) Am J Med Genet , vol.72 , pp. 205-209
    • Chu, D.C.1    Finley, S.C.2    Young, D.W.3    Proud, V.K.4
  • 11
    • 21044433130 scopus 로고    scopus 로고
    • Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome
    • Sanlaville D., Genevieve D., Bernardin C., et al. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet 13 (2005) 690-693
    • (2005) Eur J Hum Genet , vol.13 , pp. 690-693
    • Sanlaville, D.1    Genevieve, D.2    Bernardin, C.3
  • 12
    • 11344286781 scopus 로고    scopus 로고
    • Kabuki syndrome is not caused by an 8p duplication. A cytogenetic study in 20 patients
    • Engelen J.J., Vaes-Peeters G., and Schrander-Stumpel C.T. Kabuki syndrome is not caused by an 8p duplication. A cytogenetic study in 20 patients. Am J Med Genet A 132 (2005) 276-277
    • (2005) Am J Med Genet A , vol.132 , pp. 276-277
    • Engelen, J.J.1    Vaes-Peeters, G.2    Schrander-Stumpel, C.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.