Segmental overgrowth syndrome due to an activatingPIK3CAmutation identified in affected muscle tissue by exome sequencing
Author:
Affiliation:
1. Department of Clinical Genetics; Aarhus University Hospital; Skejby Aarhus Denmark
2. Department of Orthopedic Surgery; Aalborg University Hospital; Aalborg Denmark
3. Department of Pathology; Aalborg University Hospital; Aalborg Denmark
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference8 articles.
1. CLOVE(S) syndrome: Expanding the acronym;Alomari;Am J Med Genet Part A,2009
2. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome;Kurek;Am J Hum Genet,2012
3. SomaticSniper: Identification of somatic point mutations in whole genome sequencing data;Larson;Bioinformatics,2012
4. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA;Lindhurst;Nat Genet,2012
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