Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss

Autosomal recessive non-syndromic hearing loss (ARNSHL) is defined as a genetically heterogeneous disorder. The aim of the present study was to screen for pathogenic variants in an Iranian pedigree with ARNSHL. Next-generation targeted sequencing of 127 deafness genes in the proband detected two nov...

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Detalles Bibliográficos
Autores principales: Talebi, Farah, Ghanbari Mardasi, Farideh, Mohammadi Asl, Javad, Tizno, Saeed, Najafvand Zadeh, Marziye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Royan Institute 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759675/
https://www.ncbi.nlm.nih.gov/pubmed/29308629
http://dx.doi.org/10.22074/cellj.2018.4805

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759675/
https://www.ncbi.nlm.nih.gov/pubmed/29308629
http://dx.doi.org/10.22074/cellj.2018.4805

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