Author:
Lehman A.M.,Eydoux P.,Doherty D.,Glass I.A.,Chitayat D.,Chung B.Y.H.,Langlois S.,Yong S.L.,Lowry R.B.,Hildebrandt F.,Trnka P.
Subject
Genetics (clinical),Genetics
Reference51 articles.
1. Asphyxiating thoracic dysplasia associated with proximal myopathy and arachnoid cyst;Ardura Fernández;An Esp Pediatr,1990
2. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome;Arts;Nat Genet,2007
3. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome;Baala;Am J Hum Genet,2007
4. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy;Beales;Nat Genet,2007
Cited by
31 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. Primary cilia in skeletal development and disease;Experimental Cell Research;2023-10
2. Genotype–phenotype correlates in Joubert syndrome: A review;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-03
3. Clinical phenocopies of albinism;Journal of American Association for Pediatric Ophthalmology and Strabismus;2021-08
4. THE CASE OF JEUNE SYNDROME AMONG THE PRECARPATHIAN POPULATION;Wiadomości Lekarskie;2021
5. Ciliopathies: Coloring outside of the lines;American Journal of Medical Genetics Part A;2020-12-25