Article
The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
The British journal of ophthalmology - 1 Jun 2016
Bifari Inam N, Elkhamary Sahar M, Bolz Hanno J, Khan Arif O
Abstract excerpt
BACKGROUND: Conorenal syndrome is a systemic skeletal ciliopathy characterised by skeletal and renal findings and caused by biallelic mutations in the gene intraflagellar transport 140 Chlamydomonas homologue (IFT140). Most studies have focused on syndromic features and are by non-ophthalmologist...
Topics
- Adolescent
- Carrier Proteins
- Child
- Child, Preschool
- Ciliopathies
- DNA
- DNA Mutational Analysis
- Electroretinography
- Female
- Genes, Recessive
- Homozygote
- Humans