Utility of clinical high-depth next generation sequencing for somatic variant detection in thePIK3CA-related overgrowth spectrum-Reference-Cited by-同舟云学术

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Utility of clinical high-depth next generation sequencing for somatic variant detection in thePIK3CA-related overgrowth spectrum

Published:2016-07-26 Issue:1 Volume:91 Page:79-85
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Hucthagowder V.¹,Shenoy A.¹,Corliss M.¹,Vigh-Conrad K.A.²,Storer C.²,Grange D.K.³,Cottrell C.E.¹²

Affiliation:

1. Department of Pathology and Immunology; Washington University School of Medicine; Saint Louis MO USA

2. Department of Genetics; Washington University School of Medicine; Saint Louis MO USA

3. Division of Genetics and Genomic Medicine, Department of Pediatrics; Washington University School of Medicine; Saint Louis MO USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12819/fullpdf

Reference20 articles.

1. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA;Lindhurst;Nat Genet,2012

2. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes;Riviere;Nat Genet,2012

3. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum;Keppler-Noreuil;Am J Med Genet A,2014

4. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome;Kurek;Am J Hum Genet,2012

5. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation;Keppler-Noreuil;Am J Med Genet A,2015

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