Article
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.
American journal of medical genetics - 6 Aug 1998
Young T L, Woods M O, Parfrey P S, Green J S, O'Leary E, Hefferton D, Davidson W S
Abstract excerpt
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 se...
Topics
- Adult
- Blindness
- Chromosome Mapping
- Chromosomes, Human, Pair 3
- Female
- Fingers
- Genetic Linkage
- Haplotypes
- Humans
- Intellectual Disability
- Intelligence Tests
- Kidney
- Male
- Middle Aged
- Newfoundland and Labrador
- Obesity
- Pedigree
- Phenotype