A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

Here we describe a novel missense variant in the KCNQ4 gene and a private duplication at 7q31.1 partially involving two genes (IMMP2L and DOCK4). Both mutations segregated with nonsyndromic hearing loss in a family with three affected individuals. Initially, we identified the duplication in a screen...

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Detalles Bibliográficos
Autores principales: Uehara, Daniela T, Freitas, Érika L, Alves, Leandro U, Mazzeu, Juliana F, Auricchio, Maria TBM, Tabith, Alfredo, Monteiro, Mário LR, Rosenberg, Carla, Mingroni-Netto, Regina C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785540/
https://www.ncbi.nlm.nih.gov/pubmed/27081546
http://dx.doi.org/10.1038/hgv.2015.38

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785540/
https://www.ncbi.nlm.nih.gov/pubmed/27081546
http://dx.doi.org/10.1038/hgv.2015.38

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