You are here

  • Home
  • Archive
  • Volume 51, Issue 5
  • Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome

Article info

Article menu
Download PDFPDF
Cancer genetics
Original article
Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome

Authors

  • Steven Klein Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Hane Lee Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Shahnaz Ghahremani Department of Radiology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Pamela Kempert Division of Hematology-Oncology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Mariam Ischander Division of Pulmonary Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, USA Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, California, USA PubMed articlesGoogle scholar articles
  • Michael A Teitell Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, USA Jonsson Cancer Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Stanley F Nelson Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Julian A Martinez-Agosto Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA Jonsson Cancer Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Julian A Martinez-Agosto, 695 Charles E. Young Drive South, Gonda Research Center Room 4554, Los Angeles, CA 90095, USA; julianmartinez{at}mednet.ucla.edu
View Full Text

Citation

Klein S, Lee H, Ghahremani S, et al
Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome
Journal of Medical Genetics 2014;51:294-302.

Publication history

  • Received October 10, 2013
  • Revised February 6, 2014
  • Accepted February 21, 2014
  • First published March 27, 2014.
Online issue publication 
April 27, 2016

Article Versions

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions