A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58

Here we define a ~200 Kb genomic duplication in 2p14 as the genetic signature that segregates with postlingual progressive sensorineural autosomal dominant hearing loss (HL) in 20 affected individuals from the DFNA58 family, first reported in 2009. The duplication includes two entire genes, PLEK and...

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Publicat a:Hum Mol Genet
Autors principals: Lezirovitz, Karina, Vieira-Silva, Gleiciele A, Batissoco, Ana C, Levy, Débora, Kitajima, Joao P, Trouillet, Alix, Ouyang, Ellen, Zebarjadi, Navid, Sampaio-Silva, Juliana, Pedroso-Campos, Vinicius, Nascimento, Larissa R, Sonoda, Cindy Y, Borges, Vinícius M, Vasconcelos, Laura G, Beck, Roberto M O, Grasel, Signe S, Jagger, Daniel J, Grillet, Nicolas, Bento, Ricardo F, Mingroni-Netto, Regina C, Oiticica, Jeanne
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
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General Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7268784/
https://ncbi.nlm.nih.gov/pubmed/32337552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa075
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