Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.

doi:10.1006/geno.1998.5626

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Article

Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.

Genomics - 1 Jan 1999

Woods M O, Young T L, Parfrey P S, Hefferton D, Green J S, Davidson W S

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disease characterized by retinal dystrophy, renal structural abnormalities, obesity, dysmorphic extremities, and hypogenitalism in males. BBS is genetically heterogeneous with four known loci: BBS1 (11q), BBS2 (16q), BBS3 (3p), and BBS4 (...

Topics

Abnormalities, Multiple
Female
Founder Effect
Genetic Heterogeneity
Genetic Linkage
Genotype
Haplotypes
Humans
Incidence
Male
Microsatellite Repeats
Newfoundland and Labrador
Pedigree
Syndrome

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