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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.

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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.

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Ophthalmology Clinic
DDC:610 Medicine & health
Deposited On:15 Jan 2012 07:57
Last Modified:20 Dec 2013 09:47
Publisher DOI:10.1002/humu.21480
PubMed ID:21344540
Citations:Web of Science®. Times Cited: 14
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Scopus®. Citation Count: 16

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