SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

Congenital cataract (CC) is one of the most important causes for blindness or visual impairment in infancy. A substantial proportion of isolated CCs has monogenic causes. The disease is genetically heterogeneous, and all Mendelian modes of inheritance have been reported. We mapped a locus for isolat...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Evers, Christina, Paramasivam, Nagarajan, Hinderhofer, Katrin, Fischer, Christine, Granzow, Martin, Schmidt-Bacher, Annette, Eils, Roland, Steinbeisser, Herbert, Schlesner, Matthias, Moog, Ute
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795213/
https://ncbi.nlm.nih.gov/pubmed/25804400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.46
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