A Novel Biallelic Variant in < i > CDH23 < /i > Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation

Conclusion: By reporting a novel damaging variant, we expand the mutational spectrum of theCDH23 gene that leads to atypical USH1D. Also, reviewing the literature shows that, contrary to previous claims, different genotypes occur in theCDH23 gene allelic disorders, and there is no clear-cut genotype-phenotype correlation.Audiol Neurotol
Source: Audiology and Neurotology - Category: Audiology Source Type: research