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

@article{Hilton2009BCORAI,
  title={BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects},
  author={Emma Jane Hilton and Jennifer Johnston and Sandra Whalen and Nobuhiko Okamoto and Yoshikazu Hatsukawa and Juntaro Nishio and Hiroshi Kohara and Yoshiko Hirano and Seiji Mizuno and Chiharu Torii and Kenjiro Kosaki and Sylvie Manouvrier and Odile Boute and Rahat Perveen and Caroline Law and Anthony Moore and David Fitzpatrick and Johannes Lemke and Florence Fellmann and F G Debray and Florence Dastot-Le-Moal and Marion G{\'e}rard and Josiane Morais Martin and Pierre Bitoun and Michel Goossens and Alain Verloes and Albert A G L Schinzel and Deborah Bartholdi and Tanya M. Bardakjian and Beverly Hay and Kim Jenny and Kathreen Johnston and Michael Lyons and John William Belmont and Leslie G. Biesecker and Irina Giurgea and G Black},
  journal={European Journal of Human Genetics},
  year={2009},
  volume={17},
  pages={1325-1335}
}
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 patients with (1) OFCD syndrome, (2) putative X-linked (‘Lenz’) microphthalmia… CONTINUE READING

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