Associated Papers
Ocular manifestations of syndromic and ocular-only phenotypes of IFT140-related recessive ciliopathies.
Kaler A et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2025
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
Bifari IN et al.
The British Journal of Ophthalmology, 2016
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Braun DA et al.
Kidney International, 2016
26489029 (PubMed )
Supplement: NIHMS723233-supplement-01.pdf
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