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Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene
Authors:Rasim O. Rosti  Esra Dikoglu  Maha S. Zaki  Ghada Abdel‐Salam  Nawal Makhseed  Jordan C. Sese  Damir Musaev  Basak Rosti  Mary J. Harbert  Marilyn C. Jones  Keith K. Vaux  Joseph G. Gleeson
Affiliation:1. Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York City, New York;2. Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt;3. Pediatric Department, Al‐Jahra Hospital, Jahra City, Kuwait;4. Rady Children's Hospital, Department of Pediatrics, Sharp Mary Birch Hospital, University of California San Diego School of Medicine, San Diego, California;5. Division of Medical Genetics, Department of Medicine, University of California San Diego School of Medicine, San Diego, California;6. Correspondence to:;7. Keith K. Vaux, Division of Medical Genetics, Department of Medicine, University of California San Diego School of Medicine, 9500 Gilman Dr. La Jolla, CA 92130.;8. E‐mail:;9. Joseph G. Gleeson, M.D., Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Avenue, New York, NY 10065.;10. E‐mail:
Abstract:
Keywords:Galloway–  Mowat syndrome  cerebellar atrophy  coarse face  WDR73  nephrotic syndrome
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