Ocular phenotypes of three genetic variants of Bardet–Biedl syndrome
✍ Scribed by Elise Héon; Carol Westall; Rivka Carmi; Khalil Elbedour; Carole Panton; Leslie MacKeen; Edwin M. Stone; Val C. Sheffield
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 199 KB
- Volume
- 132A
- Category
- Article
- ISSN
- 1552-4825
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Bardet-Biedl syndrome (BBS) and Laurence-Moon syndrome (LMS) have a similar phenotype, which includes retinal dystrophy, obesity, and hypogenitalism. They are differentiated by the presence of spasticity and the absence of polydactyly in LMS. The aims of this study were to describe the epidemiology
There are at least five distinct Bardet-Biedl syndrome (BBS) loci, four of which have been mapped: 11q (BBS1), 16q (BBS2), 3p (BBS3), and 15q (BBS4). A comparative study of the three Arab-Bedouin kindreds used to map the BBS2, BBS3, and BBS4 loci suggests that the variability in the number and sever