Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2016133.pdf
Reference15 articles.
1. Rauch A, Wieczorek D, Graf E et al: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012; 380: 1674–1682.
2. de Ligt J, Willemsen MH, van Bon BW et al: Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012; 367: 1921–1929.
3. Gilissen C, Hehir-Kwa JY, Thung DT et al: Genome sequencing identifies major causes of severe intellectual disability. Nature 2014; 511: 344–347.
4. Kielkopf CL, Lücke S, Green MR. : U2AF homology motifs: protein recognition in the RRM world. Genes Dev 2004; 18: 1513–1526.
5. Hastings ML, Allemand E, Duelli DM, Myers MP, Krainer AR. : Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65). PLoS One 2007; 2: e538.
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