Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

BACKGROUND: Implementation of whole exome sequencing has provided unique opportunity for a wide screening of causative variants in genetically heterogeneous diseases, including nonsyndromic hearing impairment. TRIOBP in the inner ear is responsible for proper structure and function of stereocilia an...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Pollak, Agnieszka, Lechowicz, Urszula, Murcia Pieńkowski, Victor Abel, Stawiński, Piotr, Kosińska, Joanna, Skarżyński, Henryk, Ołdak, Monika, Płoski, Rafał
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5712175/
https://ncbi.nlm.nih.gov/pubmed/29197352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0499-z
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