Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management
Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome (BBS, OMIM 209900) is one among them. The disorder is clinically and genetically heterogeneous, with various primary and s...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wolters Kluwer Medknow Publications
2016-01-01
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| Serie: | Indian Journal of Ophthalmology |
| Soggetti: | |
| Accesso online: | http://www.ijo.in/article.asp?issn=0301-4738;year=2016;volume=64;issue=9;spage=620;epage=627;aulast=Priya |
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