Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports-Reference-Cited by-同舟云学术

Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports

Published:2017-06-15 Issue:7 Volume:22 Page:566-571
ISSN:1320-5358
Container-title:Nephrology
language:en
Short-container-title:Nephrology

Author:

Yoshikawa Takahisa¹^ORCID,Kamei Koichi¹^ORCID,Nagata Hiroko¹,Saida Ken¹,Sato Mai¹,Ogura Masao¹,Ito Shuichi¹²,Miyazaki Osamu³^ORCID,Urushihara Maki⁴^ORCID,Kondo Shuji⁴,Sugawara Noriko⁵^ORCID,Ishizuka Kiyonobu⁵^ORCID,Hamasaki Yuko⁶,Shishido Seiichiro⁶,Morisada Naoya⁷⁸^ORCID,Iijima Kazumoto⁷^ORCID,Nagata Michio⁹,Yoshioka Takako¹⁰,Ogata Kentaro¹¹,Ishikura Kenji¹^ORCID

Affiliation:

1. Division of Nephrology and Rheumatology; National Center for Child Health and Development; Tokyo Japan

2. Department of Pediatrics, Graduate School of Medicine; Yokohama City University; Yokohama Japan

3. Department of Radiology; National Center for Child Health and Development; Tokyo Japan

4. Department of Pediatrics, Institute of Biomedical Sciences; Tokushima University Graduate School; Tokushima Japan

5. Department of Pediatric Nephrology; Tokyo Women's Medical University; Tokyo Japan

6. Department of Pediatric Nephrology; Toho University Faculty of Medicine; Tokyo Japan

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

8. Department of Clinical Genetics; Hyogo Prefectural Kobe Children's Hospital; Kobe Japan

9. Department of Kidney and Vascular Pathology, Faculty of Medicine; University of Tsukuba; Ibaraki Japan

10. Department of Pathology; National Center for Child Health and Development; Tokyo Japan

11. Department of Pathology; Federation of National Service Personnel Mutual Aid Associations, Tachikawa Hospital; Tokyo Japan

Publisher

Wiley

Subject

Nephrology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/nep.12996/fullpdf

Reference19 articles.

1. Ciliopathies;Hildebrandt;N. Engl. J. Med.,2011

2. Educational paper

3. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19;Bredrup;Am. J. Hum. Genet.,2011

4. WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome;Coussa;Clin. Genet.,2013

5. Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies;Fehrenbach;Pediatr. Nephrol.,2014

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