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

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 presen...

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Vydáno v:BMC Med Genomics
Hlavní autoři: Fahimi, Hossein, Behroozi, Samira, Noavar, Sadaf, Parvini, Farshid
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2021
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7852090/
https://ncbi.nlm.nih.gov/pubmed/33530996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-00884-4
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