VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype-Reference-Cited by-同舟云学术

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VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype

Published:2013-12-04 Issue:9 Volume:22 Page:1149-1152
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Coppin Lucie,Grutzmacher Claudine,Crépin Michel,Destailleur Evelyne,Giraud Sophie,Cardot-Bauters Catherine,Porchet Nicole,Pigny Pascal

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013279.pdf

Reference10 articles.

1. Maher ER, Neumann HP, Richard S : von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet 2011; 19: 617–623.

2. Ciotti P, Garuti A, Gulli R, Ballestrero A, Bellone E, Mandich P : Germline mutations in the von Hippel Lindau gene in Italian patients. Eur J Med Genet 2009; 52: 311–314.

3. Wu P, Zhang N, Wang X et al: Mosaicism in von Hippel-Lindau disease with severe renal manifestations. Clin Genet 2013, e-pub ahead of print 5 February 2013; doi: 10.1111/cge.12092.

4. Sgambati MT, Stolle C, Choyke PL et al: Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. Am J Hum Genet 2000; 66: 84–91.

5. Pagnamenta AT, Lise S, Harrison V et al: Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. J Hum Genet 2012; 57: 70–72.

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