Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

doi:10.1016/j.ajhg.2009.06.016

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Article

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

American journal of human genetics - 1 Aug 2009

Thiadens Alberta A H J, den Hollander Anneke I, Roosing Susanne, Nabuurs Sander B, Zekveld-Vroon Renate C, Collin Rob W J, De Baere Elfride, Koenekoop Robert K, van Schooneveld Mary J, Strom Tim M, van Lith-Verhoeven Janneke J C, Lotery Andrew J, van Moll-Ramirez Norka, Leroy Bart P, van den Born L Ingeborgh, Hoyng Carel B, Cremers Frans P M, Klaver Caroline C W

Abstract excerpt

Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (CD) and complete and incomplete achromatopsia (ACHM). The underlying disease mechanisms of autosomal recessive (ar)CD are largely unknown. Our aim was to identify causative genes for these disorders by genome-wide homozygosity mapping. We investigated 75 ACHM, 97 arCD, and 20 early-onset arCD probands and...

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PMID: 19615668
DOI: 10.1016/j.ajhg.2009.06.016
PMCID: PMC2725240

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