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  • Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

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Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

Authors

  • Rasim Ozgur Rosti Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA PubMed articlesGoogle scholar articles
  • Bethany N Sotak Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA PubMed articlesGoogle scholar articles
  • Stephanie L Bielas Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan PubMed articlesGoogle scholar articles
  • Gifty Bhat Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA Division of Pediatric Genetics , The Children’s Hospital at Montefiore, Bronx, Bronx, New York, USA PubMed articlesGoogle scholar articles
  • Jennifer L Silhavy Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA PubMed articlesGoogle scholar articles
  • Ayca Dilruba Aslanger Department of Medical Genetics, Koç University Hospital, Istanbul 34010, Turkey PubMed articlesGoogle scholar articles
  • Umut Altunoglu Department Medical Genetics, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Ilmay Bilge Department of Pediatric Nephrology, Koç University Hospital, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Mehmet Tasdemir Department of Pediatric Nephrology, Koç University Hospital, Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Amanda D Yzaguirrem Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA PubMed articlesGoogle scholar articles
  • Damir Musaev Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA PubMed articlesGoogle scholar articles
  • Sofia Infante Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA PubMed articlesGoogle scholar articles
  • Whitney Thuong Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA PubMed articlesGoogle scholar articles
  • Isaac Marin-Valencia Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA PubMed articlesGoogle scholar articles
  • Stanley F Nelson Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Hulya Kayserili Department of Medical Genetics, Koç University Hospital, Istanbul 34010, Turkey Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey PubMed articlesGoogle scholar articles
  • Joseph G Gleeson Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, California, USA Laboratory for Pediatric Brain Disease, The Rockefeller University, New York, New York, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Joseph G Gleeson, Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences University of California, San DiegoLa Jolla, CA 92093, USA; jogleeson{at}ucsd.edu
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Citation

Rosti RO, Sotak BN, Bielas SL, et al
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome
Journal of Medical Genetics 2017;54:399-403.

Publication history

  • Received August 11, 2016
  • Revised January 23, 2017
  • Accepted January 25, 2017
  • First published March 9, 2017.
Online issue publication 
December 28, 2018

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.