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Expanding the phenotype of mutations in DICER1: mosiac 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, USADepartment 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, USADepartment 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, USAJonsson 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, USADepartment 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, USAJonsson Cancer Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USADivision 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
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Citation

Klein S, Lee H, Ghahremani S, et al
Expanding the phenotype of mutations in DICER1: mosiac missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome

Publication history

  • Received 10 October 2013
  • Revised 6 February 2014
  • Accepted 21 February 2014
  • Published online 27 March 2014.

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