Usher syndrome: clinical features, molecular genetics and advancing therapeutics
نویسندگان
چکیده
منابع مشابه
Clinical and molecular genetics of Usher syndrome.
Usher syndrome is an autosomal-recessive disorder manifested by hearing impairment, retinitis pigmentosa (RP), and variable vestibular deficit. Recent progress in the characterization of the genetics of Usher syndrome has shown that this disorder is phenotypically and genetically complex. This progress impacts the approach of the clinicians in the study of patients who may potentially have Ushe...
متن کاملThe molecular genetics of Usher syndrome.
Association of sensorineural deafness and progressive retinitis pigmentosa with and without a vestibular abnormality is the hallmark of Usher syndrome and involves at least 12 loci among three different clinical subtypes. Genes identified for the more commonly inherited loci are USH2A (encoding usherin), MYO7A (encoding myosin VIIa), CDH23 (encoding cadherin 23), PCDH15 (encoding protocadherin ...
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متن کاملUsher syndrome: from genetics to pathogenesis.
Usher syndrome (USH) is defined by the association of sensorineural deafness and visual impairment due to retinitis pigmentosa. The syndrome has three distinct clinical subtypes, referred to as USH1, USH2, and USH3. Each subtype is genetically heterogeneous, and 12 loci have been detected so far. Four genes have been identified, namely, USH1B, USH1C, USH1D, and USH2A. USH1B, USH1C, and USH1D en...
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ژورنال
عنوان ژورنال: Therapeutic Advances in Ophthalmology
سال: 2020
ISSN: 2515-8414,2515-8414
DOI: 10.1177/2515841420952194