Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance-Reference-Cited by-同舟云学术

Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance

Published:2015-04-29 Issue:9 Volume:167 Page:2122-2131
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Russell Bianca¹,Johnston Jennifer J.²,Biesecker Leslie G.²,Kramer Nancy³,Pickart Angela⁴,Rhead William⁴,Tan Wen-Hann⁵,Brownstein Catherine A.⁵,Kate Clarkson L.⁶,Dobson Amy⁶,Rosenberg Avi Z.⁷,Vergano Samantha A. Schrier⁸,Helm Benjamin M.⁸,Harrison Rachel E.⁹,Graham John M.³

Affiliation:

1. Division of Human Genetics; Cincinnati Children's Hospital; Cincinnati Ohio

2. National Human Genome Research Institute; National Institute of Health; Bethesda Maryland

3. Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor-UCLA Medical Center; David Geffen School of Medicine at UCLA; Los Angeles California

4. Section of Medical Genetics; Children's Hospital of Wisconsin; Milwaukee Wisconsin

5. Division of Genetics and Genomics; Boston Children's Hospital; Boston Massachusetts

6. Greenwood Genetic Center; Columbia; South Carolina

7. Laboratory of Pathology; National Cancer Institute; National Institute of Health; Bethesda Maryland

8. Division of Medical Genetics and Metabolism; Children's Hospital of The King's Daughters; Norfolk Virginia

9. Clinical Genetics Service; Nottingham University Hospitals Trust; Nottingham United Kingdom

Funder

NIH

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37131/fullpdf

Reference30 articles.

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4. The HARE-HTH and associated domains: Novel modules in the coordination of epigenetic DNA and protein modifications;Aravind;Cell Cycle,2012

5. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome;Bainbridge;Genome Med,2013

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