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Article

A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.

BMC medical genomics - 2 Feb 2021

Fahimi Hossein, Behroozi Samira, Noavar Sadaf, Parvini Farshid

Abstract excerpt

BACKGROUND: Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss. Here, we investigate the genetic etiology of deafness in two GJB2 and GJB6 negative patients presenting with pre-lingual, progressive, severe hearing loss. METHODS: Targeted exome sequencing (TES) using Next...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33530996
DOI: 10.1186/s12920-021-00884-4
PMCID: PMC7852090

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