Article
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Nature genetics - 1 Aug 2002
Mykytyn Kirk, Nishimura Darryl Y, Searby Charles C, Shastri Mythreyi, Yen Hsan-jan, Beck John S, Braun Terry, Streb Luan M, Cornier Alberto S, Cox Gerald F, Fulton Anne B, Carmi Rivka, Lüleci Güven, Chandrasekharappa Settara C, Collins Francis S, Jacobson Samuel G, Heckenlively John R, Weleber Richard G, Stone Edwin M, Sheffield Val C
Abstract excerpt
Bardet-Biedl syndrome (BBS, OMIM 209900) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation and hypogenitalism. Individuals with BBS are also at increased risk for diabetes mellitus, hypertension and congenital heart disease. What was once thought to be a homogeneous autosomal recessive disorder is now known to map to at least...
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