Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

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Title: Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.
Authors: Rustad CF; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway. cerus@ous-hf.no.; The Medical Faculty, University of Oslo, Oslo, Norway. cerus@ous-hf.no., Bragadottir R; The Medical Faculty, University of Oslo, Oslo, Norway.; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Nordgarden H; National Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diaconal Hospital, Oslo, Norway., Miller JU; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway., Åsten PM; National Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diaconal Hospital, Oslo, Norway., Vasconcelos G; National Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diaconal Hospital, Oslo, Norway., Kulseth MA; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Olsen HG; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., von der Lippe C; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Sigurdardottir S; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 14; Vol. 20 (1), pp. 127. Date of Electronic Publication: 2025 Mar 14.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1750-1172
DOI:10.1186/s13023-025-03641-3