{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:32:29Z","timestamp":1790044349227,"version":"4.0.1"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3501,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,11,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Bardet\u2010Biedl syndrome (BBS) is an autosomal\u2010recessive disorder of mental retardation, obesity, retinal dystrophy, polydactyly, and hypogenitalism. Renal and cardiac abnormalities are also frequent in this disorder. Previous clinical suggestions of heterogeneity of BBS were confirmed recently by the identification of four different chromosome loci linked to the disease. In this study we compared clinical manifestations of the syndrome in patients from 3 unrelated, extended Arab\u2010Bedouin kindreds which were used for the linkage mapping of the BBS loci to chromosomes 3, 15, and 16. The observed differences included the limb distribution of the postaxial polydactyly and the extent and age\u2010association of obesity. It appears that the chromosome 3 locus is associated with polydactyly of all four limbs, while polydactyly of the chromosome 15 type is mostly confined to the hands. On the other hand, the chromosome 15 type is associated with early\u2010onset morbid obesity, while the chromosome 16 type appears to present the \u201cleanest\u201d form of BBS. Future cloning of the various BB genes will contribute to the understanding of the molecular basis of limb development and to the identification of human obesity\u2010related genes. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590216","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:12:23Z","timestamp":1118513543000},"page":"199-203","source":"Crossref","is-referenced-by-count":82,"title":["Phenotypic differences among patients with Bardet\u2010Biedl syndrome linked to three different chromosome loci"],"prefix":"10.1002","volume":"59","author":[{"given":"Rivka","family":"Carmi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalil","family":"Elbedour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin M.","family":"Stone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val C.","family":"Sheffield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1","article-title":"Investigations cliniques et g\u00e9n\u00e9tiques sur le syndrome de Bardet\u2010Biedl en Suisse","volume":"18","author":"Ammann F","year":"1970","journal-title":"J Genet Hum"},{"key":"e_1_2_1_3_1","unstructured":"BardetG(1920):Sur un syndrome d'ob\u00e9sit\u00e9 cong\u00e9nitale avec polydactylie et retinite pigmentaire (contribution a l'\u00e9tude des formes cliniques de l'obesit\u00e9 hypophysaire). 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