Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg201460.pdf
Reference15 articles.
1. Barakat, M. R., Traboulsi, E. I. & Sears, J. E. Coats' disease, megalopapilla and Cornelia de Lange syndrome. Ophthalmic Genet. 30, 106–108 (2009).
2. Milot, J. & Demay, F. Ocular anomalies in de Lange syndrome. Am. J. Ophthalmol. 74, 394–399 (1972).
3. Mannini, L., Cucco, F., Quarantotti, V., Krantz, I. D. & Musio, A. Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. Hum. Mutat. 34, 1589–1596 (2013).
4. Krantz, I. D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L. A., Yaeger, D. et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat. Genet. 36, 631–635 (2004).
5. Tonkin, E. T., Wang, T. J., Lisgo, S., Bamshad, M. J. & Strachan, T. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat. Genet. 36, 636–641 (2004).
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