New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

PURPOSE: Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare multi-organ disorder in which BBS patients manifest a variable phenotype that includes retinal dystrophy, polydactyly, mental delay, obesity, and also reproductive tract and renal abnormalities. Mutations in 14 genes (BBS1–BBS14) are found...

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Bibliografiska uppgifter
Huvudupphovsmän: Pereiro, Ines, Valverde, Diana, Piñeiro-Gallego, Teresa, Baiget, Montserrat, Borrego, Salud, Ayuso, Carmen, Searby, Charles, Nishimura, Darryl
Materialtyp: Artigo
Språk:Inglês
Publicerad: Molecular Vision 2010
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Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2817015/
https://ncbi.nlm.nih.gov/pubmed/20142850
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