EED-associated overgrowth in a second male patient
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg201651.pdf
Reference17 articles.
1. Tatton-Brown, K. & Rahman, N. The NSD1 and EZH2 overgrowth genes, similarities and differences. Am. J. Med. Genet. C 163C, 86–91 (2013).
2. Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T. et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat. Genet. 30, 365–366 (2002).
3. Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R. et al. Mutations in EZH2 cause Weaver syndrome. Am. J. Hum. Genet. 90, 110–118 (2012).
4. Tatton-Brown, K., Murray, A., Hanks, S., Douglas, J., Armstrong, R., Banka, S. et al. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Am. J. Med. Genet. A 161A, 2972–2980 (2013).
5. Cohen, A. S. A., Tuysuz, B., Shen, Y., Bhalla, S. K., Jones, S. J. M. & Gibson, W. T. A novel mutation in EED associated with overgrowth. J. Hum. Genet. 60, 339–342 (2015).
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