New fundus findings in a case of Kabuki syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://www.nature.com/articles/eye2008227.pdf
Reference9 articles.
1. Niikawa N, Matsura 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 Paediatr 1981; 99: 565–569.
2. 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 (4): 570–573.
3. Niikawa N, Kuroki Y, Kajii T . The dermatoglyphic pattern of the Kabuki make-up syndrome. Clin Genet 1982; 21: 315–320.
4. Klujit I, van Dorp DB, Kwee ML, Toutain A, Keppler-Noreuil K, Warburg M et al. Kabuki syndrome-report of six cases and review literature with emphasis on ocular features. Ophthalmol Genet 2000; 21: 51–61.
5. Turner C, Lachlan K, Amerashinge N, Hodgkins P, Maloney V, Barber J et al. Kabuki syndrome: new ocular findings but no evidence of 8p22–p23. 1 duplications in a clinically defined cohort. Eur J Hum Genet 2005; 13 (6): 716–720.
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