Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

Canadian Bardet-Biedl syndrome family re

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype

✍ Young, Terry-Lynn; Woods, Mike O.; Parfrey, Patrick S.; Green, Jane S.; O'Leary, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 3 views

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