Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy
Author:
Publisher
Elsevier BV
Subject
Ophthalmology,Pediatrics, Perinatology, and Child Health
Reference9 articles.
1. Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney;Schmidts;Disease Hum Mutat,2013
2. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations;Perrault;Am J Hum Genet,2012
3. Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies;Mockel;Prog Retin Eye Res,2011
4. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III;Dagoneau;Am J Hum Genet,2009
5. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome;Merrill;Am J Hum Genet,2009
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2. Male infertility may be associated with IFT140 -related autosomal recessive retinitis pigmentosa;Ophthalmic Genetics;2023-12-11
3. Autonomous and non-cell autonomous role of cilia in structural birth defects in mice;PLOS Biology;2023-12-11
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