Article
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Science (New York, N.Y.) - 21 Sept 2001
Katsanis N, Ansley S J, Badano J L, Eichers E R, Lewis R A, Hoskins B E, Scambler P J, Davidson W S, Beales P L, Lupski J R
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by multiple clinical features that include pigmentary retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. BBS is considered an autosomal recessive disorder, and recent positional cloning efforts have identified two BBS genes (BBS2 and BBS6). We screened our cohort of 163 BBS families for mutations in...
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