Article
Clinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome.
The British journal of dermatology - 27 Jan 2026
Brandtzæg Karianne Haga, von der Lippe Charlotte, Vestengen Ingvild Kibsgaard, Holtan Josephine Prener, Winge Mona Irene, Rustad Cecilie F, Bergersen Tone Kristin, Sigurdardottir Solrun, Sjursen Wenche, Gjersvik Petter, Hortemo Kristin Halvorsen
Abstract excerpt
BACKGROUND: Basal cell naevus syndrome (BCNS) is a rare autosomal dominant condition characterized by early onset and multiple basal cell carcinomas (BCCs), skeletal and ocular abnormalities, and extracutaneous tumours and cysts. In most cases, BCNS is caused by a pathogenic variant in the tumour suppressor gene PTCH1. Pathogenic variants in SUFU account for a minority of cases. No clear genotype-phenotype...
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