Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201614.pdf
Reference21 articles.
1. Hennekam RC : Rubinstein-Taybi syndrome. Eur J Hum Genet 2006; 14: 981–985.
2. Battaglia A, Filippi T, Pusceddu S, Williams CA : Filippi syndrome: further clinical characterization. Am J Med Genet A 2008; 146A: 1848–1852.
3. Petrij F, Giles RH, Dauwerse HG et al: Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995; 376: 348–351.
4. Roelfsema JH, White SJ, Ariyürek Y et al: Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 2005; 76: 572–580.
5. Hussain MS, Battaglia A, Szczepanski S et al: Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi Syndrome. Am J Hum Genet. 2014; 95: 622–632.
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