Article
A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.
Audiology & neuro-otology - 1 Jan 2023
Khorram Erfan, Iravani Omid, Khorrami Mehdi, Amini Masoomeh, Jahanian Sara, Nilforoush Mohammad Hossein, Mousavi Seyyed Reza, Ehsanifard Mahsa, Kheirollahi Majid
Abstract excerpt
INTRODUCTION: Usher syndrome (USH) is an autosomal recessive disorder that predominantly affects hearing, vision, and, in some cases, vestibular function. USH, according to the onset age, severity, and progression of symptoms, is categorized into four main types. In addition, there are a significant number of reports that patients' manifestations deviate from canonical phenotypic criteria of main types of USH,...
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