Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report-Reference-Cited by-同舟云学术

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Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report

Published:2024-01 Issue:1 Volume:10 Page:e23257
ISSN:2405-8440
Container-title:Heliyon
language:en
Short-container-title:Heliyon

Author:

Tang Xianglian,Yi Sheng,Qin Zailong,Yi Shang,Chen Junjie,Yang Qi,Li Shanshan,Luo Jingsi^ORCID

Publisher

Elsevier BV

Subject

Multidisciplinary

Reference16 articles.

1. Ciliopathies: an expanding disease spectrum;Waters;Pediatr. Nephrol.,2011

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

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

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

5. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy;Halbritter;Hum. Genet.,2013

Cited by 1 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

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