A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

Cone dystrophies are a rare subgroup of inherited retinal dystrophies and hallmarked by color vision defects, low or decreasing visual acuity and central vision loss, nystagmus and photophobia. Applying genome-wide linkage analysis and array comparative genome hybridization, we identified a locus fo...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Kohl, Susanne, Llavona, Pablo, Sauer, Alexandra, Reuter, Peggy, Weisschuh, Nicole, Kempf, Melanie, Dehmelt, Florian Alexander, Arrenberg, Aristides B, Sliesoraityte, Ieva, Zrenner, Eberhart, van Schooneveld, Mary J, Rudolph, Günther, Kühlewein, Laura, Wissinger, Bernd
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2021
Témata:
General Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8212766/
https://ncbi.nlm.nih.gov/pubmed/33891002
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddab117
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