Homozygous splicing mutation in NUP13 3 causes Galloway-Mowat syndrome-Reference-Cited by-同舟云学术

Homozygous splicing mutation in NUP13 3 causes Galloway-Mowat syndrome

Published:2018-12 Issue:6 Volume:84 Page:814-828
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Fujita Atsushi¹,Tsukaguchi Hiroyasu²,Koshimizu Eriko¹,Nakazato Hitoshi³,Itoh Kyoko⁴,Kuraoka Shohei³,Komohara Yoshihiro⁵,Shiina Masaaki⁶,Nakamura Shohei¹,Kitajima Mika⁷,Tsurusaki Yoshinori⁸,Miyatake Satoko¹,Ogata Kazuhiro⁶,Iijima Kazumoto⁹,Matsumoto Naomichi¹,Miyake Noriko¹

Affiliation:

1. Department of Human Genetics; Yokohama City University Graduate School of Medicine; Yokohama

2. Second Department of Internal Medicine; Kansai Medical University; Osaka

3. Department of Pediatrics, Faculty of Life Sciences; Kumamoto University; Kumamoto

4. Department of Pathology and Applied Neurobiology, Graduate School of Medical Sciences; Kyoto Prefectural University of Medicine; Kyoto

5. Department of Cell Pathology, Graduate School of Medical Sciences; Kumamoto University; Kumamoto

6. Department of Biochemistry; Yokohama City University Graduate School of Medicine; Yokohama

7. Department of Diagnostic Radiology, Faculty of Life Sciences; Kumamoto University; Kumamoto

8. Clinical Research Institute, Kanagawa Children's Medical Center; Yokohama

9. Department of Pediatrics; Kobe University Graduate School of Medicine; Kobe Japan

Funder

Japan Agency for Medical Research and Development

JSPS KAKENHI

Japan Science and Technology Corporation

Takeda Science Foundation

Ichiro Kanehara Foundation for the Promotion of Medical Science and Medical Care

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.25370/fullpdf

Reference36 articles.

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2. Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes;Meyers;Am J Med Genet,1999

3. Neuropathological homology in true Galloway-Mowat syndrome;Keith;J Child Neurol,2011

4. WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease;Vodopiutz;Hum Mutat,2015

5. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome;Colin;Am J Hum Genet,2014

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