Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

PURPOSE: The aim of this study was to determine the genetic cause of autosomal dominant nonsyndromic hearing loss segregating in a multigenerational family. METHODS: Clinical examination, genome-wide linkage analysis, and exome sequencing were carried out on the family. RESULTS: Affected individuals...

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Detalles Bibliográficos
Autores principales: Booth, Kevin T., Askew, James W., Talebizadeh, Zohreh, Huygen, Patrick L. M., Eudy, James, Kenyon, Judith, Hoover, Denise, Hildebrand, Michael S., Smith, Katherine R., Bahlo, Melanie, Kimberling, William J., Smith, Richard J. H., Azaiez, Hela, Smith, Shelley D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431578/
https://www.ncbi.nlm.nih.gov/pubmed/30245514
http://dx.doi.org/10.1038/s41436-018-0285-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431578/
https://www.ncbi.nlm.nih.gov/pubmed/30245514
http://dx.doi.org/10.1038/s41436-018-0285-0

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