Building, Supporting the Usher Syndrome Community
نویسندگان
چکیده
منابع مشابه
USHER\'S SYNDROME REVISITED
Usher's syndrome is a genetically inherited autosomal recessive disorder resulting in the double handicap of deafness and progressive blindness, known as retinitis pigmentosa. The disease is also associated with psychoses, mental retardation, and other major neurophysiological changes. It appears to be more common among Jewish individuals and consanguinous marriages. While it is rare in th...
متن کاملGenetic heterogeneity of Usher syndrome.
Progress towards the understanding of the molecular basis of US has been substantial. Nine different loci have been found to be responsible and two have had the specific gene identified. This information is expected to lay the foundation for the eventual development of new treatment strategies. Usher syndrome is the combined loss of both of humans most important two senses and a better understa...
متن کاملImpact of the Usher syndrome on olfaction.
Usher syndrome is a genetically and clinically heterogeneous disease in humans, characterized by sensorineural hearing loss, retinitis pigmentosa and vestibular dysfunction. This disease is caused by mutations in genes encoding proteins that form complex networks in different cellular compartments. Currently, it remains unclear whether the Usher proteins also form networks within the olfactory ...
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 ...
متن کاملusher's syndrome revisited
usher's syndrome is a genetically inherited autosomal recessive disorder resulting in the double handicap of deafness and progressive blindness, known as retinitis pigmentosa. the disease is also associated with psychoses, mental retardation, and other major neurophysiological changes. it appears to be more common among jewish individuals and consanguinous marriages. while it is rare in th...
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ژورنال
عنوان ژورنال: The Hearing Journal
سال: 2019
ISSN: 0745-7472
DOI: 10.1097/01.hj.0000616120.46209.93