{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T04:05:38Z","timestamp":1792037138295,"version":"4.4.0"},"reference-count":71,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,8,29]],"date-time":"2021-08-29T00:00:00Z","timestamp":1630195200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Bardet\u2013Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inheritance. The clinical picture is extremely polymorphic. The main clinical features are retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary abnormalities, and kidney disease. It is caused by various types of mutations, mainly in genes encoding BBSome proteins, chaperonins, and IFT complex. Variable expressivity and pleiotropy are correlated with the existence of multiple genes and variants modifiers. This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in Bardet\u2013Biedl Syndrome, its mechanisms, and importance in early diagnosis and proper management.<\/jats:p>","DOI":"10.3390\/genes12091353","type":"journal-article","created":{"date-parts":[[2021,8,29]],"date-time":"2021-08-29T21:45:16Z","timestamp":1630273516000},"page":"1353","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Bardet\u2013Biedl Syndrome\u2014Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype\u2013Phenotype Correlations"],"prefix":"10.3390","volume":"12","author":[{"given":"Laura","family":"Florea","sequence":"first","affiliation":[{"name":"Department of Nephrology-Internal Medicine, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6327-4461","authenticated-orcid":false,"given":"Lavinia","family":"Caba","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eusebiu Vlad","family":"Gorduza","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1002\/ajmg.a.62013","article-title":"Ciliopathies: Coloring outside of the lines","volume":"185","author":"Strong","year":"2021","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/ajmg.c.30227","article-title":"Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies","volume":"151C","author":"Badano","year":"2009","journal-title":"Am. J. Med. Genet. Part C Semin. Med. 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