Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye

Upwards of 90% of individuals with Bardet-Biedl syndrome (BBS) display rod-cone dystrophy with early macular involvement. BBS is an autosomal recessive, genetically heterogeneous, pleiotropic ciliopathy for which 21 causative genes have been discovered to date. In addition to retinal degeneration, t...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Med Res Arch
मुख्य लेखकों: Weihbrecht, Katie, Goar, Wesley A., Pak, Thomas, Garrison, Janelle E., DeLuca, Adam P., Stone, Edwin M., Scheetz, Todd E., Sheffield, Val C.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2017
विषय:
Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC5814251/
https://ncbi.nlm.nih.gov/pubmed/29457131
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