Bardet-Biedl Syndrome: New Insights for the Healthcare Professional: 2011 Edition: ScholarlyPaper

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ScholarlyEditions, Jan 9, 2012 - Medical - 16 pages
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Bardet-Biedl Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Bardet-Biedl Syndrome in a compact format.

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Contents

Mutations in chaperoninlike BBS genes are a major contributor to disease development in a multiethnic BardetBiedl syndrome patient population
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic BardetBiedl syndrome
Clinical and molecular characterisation of BardetBiedl syndrome in consanguineous populations the power of homozygosity mapping
Recurrence risks for BardetBiedl syndrome Implications of locus heterogeneity
Identification of 28 novel mutations in the BardetBiedl syndrome genes the burden of private mutations in an extensively heterogeneous disease
Contrasting vascular effects caused by loss of BardetBiedl syndrome genes
New mutations in BBS genes in small consanguineous families with BardetBiedl syndrome detection of candidate regions by homozygosity mapping
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