期刊
HUMAN MUTATION
卷 32, 期 6, 页码 610-619出版社
WILEY-BLACKWELL
DOI: 10.1002/humu.21480
关键词
Bardet-Biedl syndrome; BBS; mutation; sequencing; blindness
资金
- Foundation Fighting Blindness-Canada
- Research to Prevent Blindness
- Foundation Fighting Blindness
- NIH-NEI [EY002162]
- That Man May See, Inc.
- Bernard A. Newcomb Macular Degeneration Fund
- Hope for Vision
- Swiss National Science Foundation [320030.127558]
- Swiss National Science Foundation (SNF) [320030_127558] Funding Source: Swiss National Science Foundation (SNF)
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 Alstrom and McKusick-Kauffman syndromes. Hum Mutat 32: 610-619, 2011. (C) 2011 Wiley-Liss, Inc.
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