BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects-Reference-Cited by-同舟云学术

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Published:2009-04-15 Issue:10 Volume:17 Page:1325-1335
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hilton Emma,Johnston Jennifer,Whalen Sandra,Okamoto Nobuhiko,Hatsukawa Yoshikazu,Nishio Juntaro,Kohara Hiroshi,Hirano Yoshiko,Mizuno Seiji,Torii Chiharu,Kosaki Kenjiro,Manouvrier Sylvie,Boute Odile,Perveen Rahat,Law Caroline,Moore Anthony,Fitzpatrick David,Lemke Johannes,Fellmann Florence,Debray François-Guillaume,Dastot-Le-Moal Florence,Gerard Marion,Martin Josiane,Bitoun Pierre,Goossens Michel,Verloes Alain,Schinzel Albert,Bartholdi Deborah,Bardakjian Tanya,Hay Beverly,Jenny Kim,Johnston Kathreen,Lyons Michael,Belmont John W,Biesecker Leslie G,Giurgea Irina,Black Graeme

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg200952.pdf

Reference42 articles.

1. Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V : Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome. Am J Med Genet 2001; 98: 92–100.

2. Ng D, Hadley DW, Tifft CJ, Biesecker LG : Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? Am J Med Genet 2002; 110: 308–314.

3. Ng D, Thakker N, Corcoran CM et al: Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet 2004; 36: 411–416.

4. Lenz W : Recessive, sex-limited microphthalmia with multiple abnormalities. Z Kinderheilkd 1955; 77: 384–390.

5. Hayward JR : Cuspid gigantism. Oral Surg Oral Med Oral Pathol 1980; 49: 500–501.

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