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

Abstract 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 patient...

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Ngā kaituhi matua: Hossein Fahimi (Author), Samira Behroozi (Author), Sadaf Noavar (Author), Farshid Parvini (Author)
Hōputu: Pukapuka
I whakaputaina: BMC, 2021-02-01T00:00:00Z.
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Tau karanga: A1234.567
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