Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort-Reference-Cited by-同舟云学术

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Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort

Published:2005-03-23 Issue:6 Volume:13 Page:716-720
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Turner Claire,Lachlan Katherine,Amerasinghe Nishani,Hodgkins Peter,Maloney Viv,Barber John,Temple I Karen

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201377.pdf

Reference15 articles.

1. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajji 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.

2. 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: 565–590.

3. Klujit I, van Dorp DB, Kwee ML et al: Kabuki syndrome – report of six cases and review literature with emphasis on ocular features. Ophthalm Genet 2000; 21: 51–61.

4. Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH : Coloboma and other ophthalmologic anomalies in kabuki syndrome: distinct from Charge association. Am J Med Genet 2003; 123A: 249–252.

5. Makita Y, Yamada K, Miyamoto A, Okuno A, Niikawa N : Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32–q41. Am J Med Genet 1999; 86: 285–288.

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