Ciliopathy: Usher Syndrome
- PMID: 40736834
- DOI: 10.1007/978-3-031-72230-1_32
Ciliopathy: Usher Syndrome
Abstract
There are nine known loci, USH1B to USH1K (no USH1A or USH1I).
Keywords: Ciliopathy; Retinitis pigmentosa; Usher syndrome.
© 2025. The Author(s), under exclusive license to Springer Nature Switzerland AG.
References
Further Reading
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- Lentz J, Keats BJB. Usher syndrome Type I. 1999 Dec 10 [updated 2016 May 19]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2018. Available from http://www.ncbi.nlm.nih.gov/books/NBK1265/
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- Lentz J, Keats B. Usher syndrome Type II. 1999 Dec 10 [updated 2016 Jul 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2018. Available from http://www.ncbi.nlm.nih.gov/books/NBK1341/
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- Lopes VS, Williams DS. Gene therapy for the retinal degeneration of Usher syndrome caused by mutations in MYO7A. Cold Spring Harb Perspect Med. 2015;5:a017319.
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