Article
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
European journal of human genetics : EJHG - 1 Oct 2009
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
Abstract excerpt
Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene (BCOR). To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in...
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