Article
Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2010
Sapp Julie C, Nishimura Darryl, Johnston Jennifer J, Stone Edwin M, Héon Elise, Sheffield Val C, Biesecker Leslie G
Abstract excerpt
PURPOSE: Bardet-Biedl syndrome is a pleiotropic multiple anomaly syndrome inherited in an autosomal recessive pattern. It is now known that this disorder has locus heterogeneity, with causative mutations identified in as many as 14 genes. The aim of this study was to derive locus-specific recurrence risk estimates for family members of a proband affected with Bardet-Biedl syndrome. METHODS: Mutation data from 187...
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