Article
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Human mutation - 1 Jun 2011
Deveault Catherine, Billingsley Gail, Duncan Jacque L, Bin Jenea, Theal Rebecca, Vincent Ajoy, Fieggen Karen J, Gerth Christina, Noordeh Nima, Traboulsi Elias I, Fishman Gerald A, Chitayat David, Knueppel Tanja, Millán José M, Munier Francis L, Kennedy Debra, Jacobson Samuel G, Innes A Micheil, Mitchell Grant A, Boycott Kym, Héon Elise
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational analysis of our multiethnic cohort of 83 families (105 cases); 75.9% of them have their mutations identified including 26 novel changes. Comprehensive phenotyping of...
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