Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, are responsible for both recessive DFNB12 nonsyndromic hearing loss (NSHL) and Usher syndrome 1D (USH1D). The encoded protein cadherin 23 (CDH23) plays a vital ro...

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Vydáno v:Genes (Basel)
Hlavní autoři: Ramzan, Khushnooda, Al-Numair, Nouf S., Al-Ageel, Sarah, Elbaik, Lina, Sakati, Nadia, Al-Hazzaa, Selwa A. F., Al-Owain, Mohammed, Imtiaz, Faiqa
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7764456/
https://ncbi.nlm.nih.gov/pubmed/33316915
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11121474
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