Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-54748
Deveault, C; Billingsley, G; Duncan, J L; Bin, J; Theal, R; Vincent, A; Fieggen, K J; Gerth, C; Noordeh, N; Traboulsi, E I; Fishman, G A; Chitayat, D; Knueppel, T; Millan, J M; Munier, F L; Kennedy, D; Jacobson, S G; Innes, A M; Mitchell, G A; Boycott, K; Héon, E (2011). BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Human Mutation, 32(6):610-619.
PDF - Registered users only
View at publisher
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 these patients demonstrate that the spectrum of clinical features is greater than expected and overlapped with the features of other ciliopathies; specifically Alström and McKusick-Kauffman syndromes.
1 download since deposited on 15 Jan 2012
0 downloads since 12 months
|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > University Hospital Zurich > Ophthalmology Clinic|
|Dewey Decimal Classification:||610 Medicine & health|
|Deposited On:||15 Jan 2012 07:57|
|Last Modified:||20 Dec 2013 09:47|
Users (please log in): suggest update or correction for this item
Repository Staff Only: item control page