Clinical and genetic aspects of Bardet–Biedl syndrome in adults in Norway
A multidisciplinary examination is important for proper management of BBS. The genotype and phenotype of this sample were heterogeneous, including kidney failure, genital anomalies and obesity. Genome sequencing increased the likelihood of identifying the genetic cause. In BBS populations, the patients will benefit from testing or reanalysis, preferably with genome sequencing, including searching for deep intronic variants.
Authors
- Cecilie F. Rustad (ORCID: https://orcid.org/0000-0001-7903-9087)
- Øystein L. Holla (ORCID: https://orcid.org/0000-0002-7697-857X)
- Charlotte von der Lippe (ORCID: https://orcid.org/0000-0003-3176-0160)
- Ragnheiður Bragadóttir (ORCID: https://orcid.org/0000-0001-6381-9492)
- Kristian Tveten (ORCID: https://orcid.org/0000-0003-1316-5843)
- Hilde Nordgarden (ORCID: https://orcid.org/0000-0003-3252-1735)
- Jeanette Ullmann Miller
- Sólrún Sigurðardóttir (ORCID: https://orcid.org/0000-0002-7194-3570)
- Mari Ann Kulseth
- Glauber Gean de Vasconcelos (ORCID: https://orcid.org/0000-0003-1598-4412)
- Hanne Gro Olsen
- Pamela Åsten
Institutions
- Oslo University Hospital (NO)
- OsloMet – Oslo Metropolitan University (NO)
- University of Oslo (NO)
- Akershus University Hospital (NO)
- Lovisenberg Diakonale Høgskole (NO)
- Telemark Hospital (NO)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-03-14
- DOI
- https://doi.org/10.1186/s13023-025-03641-3
- Citations
- 5
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 9.09
Funders
- Universitetet i Oslo