Article

A Novel Recessive PDZD7 Bi-Allelic Mutation in an Iranian Family with Non-Syndromic Hearing Loss

2020-12-31

Abstract excerpt

<title>Abstract</title> <p>BackgroundAutosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss (HL). Here, we investigate the genetic etiology of deafness in two<italic>GJB2</italic> and <italic>GJB6</italic> negative patients presenting with pre-lingual, progressive, severe hearing lo...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7ca6c501-8b21-5c82-b89b-f9d97d9ceb70
DOI: 10.21203/rs.3.rs-136141/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Novel Recessive PDZD7 Bi-Allelic Mutation in an Iranian Family with Non-Syndromic Hearing LossDOI 10.21203/rs.3.rs-136141/v1Read

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

Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.Semantic proximity Read

Identification of novel gene variants causing autosomal recessive non-syndromic hearing loss in Iranian familiesSemantic proximity Read

Novel Homozygous Mutation in PDZD7 Gene in a Family with Nonsyndromic Sensorineural Hearing LossSemantic proximity Read

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.Semantic proximity Read

Clinical and genetic study of twelve Chinese Han families with non-syndromic deafnessSemantic proximity Read

Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.Semantic proximity Read

PDZD7 and hearing loss: More than just a modifier.Semantic proximity Read

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.Semantic proximity Read

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Semantic proximity Read

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.Semantic proximity Read

Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.Semantic proximity Read