Publication: BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects
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Hilton, E., Johnston, J., Whalen, S., Okamoto, N., et al, & Schinzel, A. (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics, 17, 1325–1335. https://doi.org/10.1038/ejhg.2009.52
Abstract
Abstract
Abstract
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 syndrome, (3) isolated ocular defects and (4) la
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Creators (Authors)
- Hilton, Emma
- Johnston, J
- Whalen, S
- Okamoto, N
- et al
- Schinzel, Albert
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Citations
Hilton, E., Johnston, J., Whalen, S., Okamoto, N., et al, & Schinzel, A. (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics, 17, 1325–1335. https://doi.org/10.1038/ejhg.2009.52
