Article
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Ear and hearing - 1 Jan 2000
Nisenbaum Eric, Thielhelm Torin P, Nourbakhsh Aida, Yan Denise, Blanton Susan H, Shu Yilai, Koehler Karl R, El-Amraoui Aziz, Chen Zhengyi, Lam Byron L, Liu Xuezhong
Abstract excerpt
Usher syndrome (USH) encompasses a group of clinically and genetically heterogenous disorders defined by the triad of sensorineural hearing loss (SNHL), vestibular dysfunction, and vision loss. USH is the most common cause of deaf blindness. USH is divided clinically into three subtypes-USH1, USH2, and USH3-based on symptom severity, progression, and age of onset. The underlying genetics of these USH forms are,...
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