The ophthalmic phenotype ofIFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy
Author:
Publisher
BMJ
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Reference14 articles.
1. The primary cilium as a complex signaling center;Berbari;Curr Biol,2009
2. Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies;Mockel;Prog Retin Eye Res,2011
3. Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy;Khan;J AAPOS,2014
4. Ophthalmic features of children not yet diagnosed with Alstrom syndrome;Khan;Ophthalmology,2015
5. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations;Perrault;Am J Hum Genet,2012
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