Article
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
Ophthalmic genetics - 1 Jan 2000
Liu Yangfan P, Bosch Daniëlle G M, Siemiatkowska Anna M, Rendtorff Nanna Dahl, Boonstra F Nienke, Möller Claes, Tranebjærg Lisbeth, Katsanis Nicholas, Cremers Frans P M
Abstract excerpt
BACKGROUND: Retinitis pigmentosa (RP) is the most common cause of inherited retinal degeneration and can occur in non-syndromic and syndromic forms. Syndromic RP is accompanied by other symptoms such as intellectual disability, hearing loss, or congenital abnormalities. Both forms are known to exhibit complex genetic interactions that can modulate the penetrance and expressivity of the phenotype. MATERIALS AND...
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