A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

BACKGROUND: Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) constitutes a major share of HL cases. In the present study, Whole exome sequencing...

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Detalles Bibliográficos
Autores principales: Sarmadi, Akram, Nasrniya, Samane, Soleimani Farsani, Maryam, Narrei, Sina, Nouri, Zahra, Sepehrnejad, Mahsa, Nilforoush, Mohammad Hussein, Abtahi, Hamidreza, Tabatabaiefar, Mohammad Amin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7285524/
https://www.ncbi.nlm.nih.gov/pubmed/32517708
http://dx.doi.org/10.1186/s12881-020-01061-7

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