WDR19 : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome-Reference-Cited by-同舟云学术

WDR19 : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome

Published:2013-07-09 Issue:2 Volume:84 Page:150-159
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Coussa R G¹²³⁴,Otto E A⁵,Gee H‐Y⁶,Arthurs P¹²³⁴,Ren H¹²³⁴,Lopez I¹²³⁴,Keser V¹²³⁴,Fu Q¹²³⁴,Faingold R¹²³⁴,Khan A¹²³⁴,Schwartzentruber J⁷⁸,Majewski J⁷⁸,Hildebrandt F⁶⁹,Koenekoop R K¹²³⁴

Affiliation:

1. Department of Paediatric Surgery

2. Department of Radiology

3. Department of Ophthalmology

4. Department of Human Genetics McGill University Health Centre Montreal Quebec Canada

5. Department of Pediatrics University of Michigan Ann Arbor MI USA

6. Division of Nephrology, Department of Medicine, Boston Children's Hospital Harvard Medical School Boston MA USA

7. Department of Human Genetics McGill University Montreal Quebec Canada

8. McGill University and Genome Quebec Innovation Center Montreal Quebec Canada

9. Howard Hughes Medical Institute Chevy Chase MD USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12196

Reference31 articles.

1. Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland

2. Population genetic studies of retinitis pigmentosa;Boughman JA;Am J Hum Genet,1980

3. On the heredity of retinitis pigmentosa.

4. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns

5. PagonRAandDaigerSP NBK1417PMID: 20301590 fromhttp://www.ncbi.nlm.nih.gov/pubmed/20301590. Accessed on April 12 2013.

Cited by 59 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Biliary Cirrhosis associated with WDR19-Related Ciliopathy in Siblings;Journal of Hepatology;2024-08

2. A case report of intrahepatic bile duct dilatation caused by WDR19 gene mutation and presented as Caroli syndrome;Translational Pediatrics;2024-04

3. A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023;BMC Ophthalmology;2024-02-05

4. Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report;Heliyon;2024-01

5. Intraflagellar transport: A critical player in photoreceptor development and the pathogenesis of retinal degenerative diseases;Cytoskeleton;2023-12-23