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- W4384458230 abstract "We report two patients with musculoskeletal manifestations as part of the Bardet-Biedl syndrome. The first patient (case 1) was born with polydactyly and later diagnosed with coxa vara. He had homozygous pathogenic mutation in the BBS1 gene of the variant c.1645G>T (p.Glu459*). The second patient (case 2) had nyctalopia and progressive vision worsening had osteoarthritis symptoms. He had a heterozygous mutation in the BBS1 gene of the variant c.1169T>G (p.Met390Arg). Although polydactyly is the most prevalent musculoskeletal association in patients with the syndrome, co-management of the musculoskeletal manifestations remains of utmost importance in patients with the syndrome." @default.
- W4384458230 created "2023-07-16" @default.
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- W4384458230 date "2023-07-16" @default.
- W4384458230 modified "2023-10-04" @default.
- W4384458230 title "Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases" @default.
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- W4384458230 doi "https://doi.org/10.7759/cureus.41963" @default.
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