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- W2106538986 endingPage "2299" @default.
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- W2106538986 abstract "Few autosomal recessive disorders display the degree of pleiotropism and genetic heterogeneity found in Bardet–Biedl syndrome (BBS), a genetic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, cognitive impairment and gonadal and renal dysgenesis. This relatively rare condition has been reported frequently, but we have only recently begun to appreciate the genetic complexities that give rise to this constellation of clinical findings. During the last 12 months, the first three of at least six BBS genes have been identified, providing us for the first time with the ability to formulate hypotheses regarding the molecular etiology of the disorder. Here we review the key elements of the phenotype and discuss the significance of the discovery of the first three BBS genes on the effort to identify the cellular causes of this syndrome." @default.
- W2106538986 created "2016-06-24" @default.
- W2106538986 creator A5041321997 @default.
- W2106538986 date "2001-10-01" @default.
- W2106538986 modified "2023-10-10" @default.
- W2106538986 title "Exploring the molecular basis of Bardet-Biedl syndrome" @default.
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- W2106538986 doi "https://doi.org/10.1093/hmg/10.20.2293" @default.
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