Clinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome
This study expands the number of pathogenic PTCH1 variants, elucidates important clinical aspects in BCNS and reveals novel insight to genotype-phenotype associations, providing new implications for management and follow-up.
Authors
- Cecilie F. Rustad (ORCID: https://orcid.org/0000-0001-7903-9087)
- Charlotte von der Lippe (ORCID: https://orcid.org/0000-0003-3176-0160)
- Mona I. Winge (ORCID: https://orcid.org/0000-0002-6756-8886)
- Wenche Sjursen (ORCID: https://orcid.org/0000-0003-3880-6440)
- Josephine Prener Holtan (ORCID: https://orcid.org/0000-0001-7731-0750)
- Tone Kristin Bergersen
- Kristin Halvorsen Hortemo
- Sólrún Sigurðardóttir (ORCID: https://orcid.org/0000-0002-7194-3570)
- Petter Gjersvik (ORCID: https://orcid.org/0000-0002-3596-9829)
- Ingvild Kibsgaard Vestengen
- Karianne Haga Brandtzæg
Institutions
- Oslo University Hospital (NO)
- University of Oslo (NO)
- Norwegian University of Science and Technology (NO)
- Lovisenberg Diakonale Høgskole (NO)
- St Olav's University Hospital (NO)
- Telemark Hospital (NO)
- Lovisenberg Diakonale Sykehus (NO)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-10-22
- DOI
- https://doi.org/10.1093/bjd/ljaf413
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sanofi
- Santen
- Sun Pharma
- LEO Pharma