Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://link.springer.com/content/pdf/10.1007/s10792-007-9118-x.pdf
Reference12 articles.
1. Niikawa N, Matsuura N, Fukushima Y et al (1981) Kabuki make-up syndrome. A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99:565–569
2. Kuroki Y, Suzuki Y, Chyo H et al (1981) 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 99:570–573
3. PeBenito R, Ferretti C (1989) Kabuki makeup syndrome (Niikawa–Kuroki syndrome) in a black child. Ann Ophthalmol 21:312–315
4. Gillis R, Klar A, Gross-Kieselstein E (1990) The Niikawa–Kuroki (Kabuki make-up) syndrome in a Moslem Arab child. Clin Genet 38:378–381
5. Matsumoto N, Niikawa N (2003) Kabuki make-up syndrome: a review. Am J Med Genet 117C:57–65
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1. Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology;Graefe's Archive for Clinical and Experimental Ophthalmology;2024-01-11
2. A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report;The Application of Clinical Genetics;2021-10
3. Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature;European Journal of Medical Genetics;2021-06
4. Changes in ocular motility in Kabuki syndrome;Archivos de la Sociedad Española de Oftalmología (English Edition);2020-01
5. Alteraciones de la motilidad ocular en el síndrome de Kabuki;Archivos de la Sociedad Española de Oftalmología;2020-01
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