Ontology highlight
ABSTRACT:
SUBMITTER: Young TL
PROVIDER: S-EPMC1288379 | biostudies-literature | 1999 Dec
REPOSITORIES: biostudies-literature
Young T L TL Woods M O MO Parfrey P S PS Green J S JS Hefferton D D Davidson W S WS
American journal of human genetics 19991201 6
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder; major phenotypic findings include dysmorphic extremities, retinal dystrophy, obesity, male hypogenitalism, and renal anomalies. In the majority of northern European families with BBS, the syndrome is linked to a 26-cM region on chromosome 11q13. However, the finding, so far, of five distinct BBS loci (BBS1, 1q; BBS2, 16q; BBS3, 3p; BBS4, 15q; BBS5, 2q) has hampered the positional cloning of these genes. We use linkage disequili ...[more]