Article
Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.
Journal of medical genetics - 1 Oct 2018
de Bruijn Suzanne E, Verbakel Sanne K, de Vrieze Erik, Kremer Hannie, Cremers Frans P M, Hoyng Carel B, van den Born L Ingeborgh, Roosing Susanne
Abstract excerpt
BACKGROUND: Retinitis pigmentosa (RP) shows substantial genetic heterogeneity. It has been estimated that in approximately 60%-80% of RP cases, the genetic diagnosis can be found using whole exome sequencing (WES). In this study, the purpose was to identify causative variants in individuals with genetically unexplained retinal disease, which included one consanguineous family with two affected siblings and one...
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