Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

Gorlin syndrome is mainly caused by pathogenic germline variants in the tumour suppressor genes PTCH1 and SUFU, both regulatory genes in the hedgehog pathway. However, the phenotypes of patients with PTCH1 and SUFU pathogenic variants seem to differ. We present a family with a frameshift variant in...

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Detalles Bibliográficos
Autores principales: Askaner, Gustav, Lei, Ulrikke, Bertelsen, Birgitte, Venzo, Alessandro, Wadt, Karin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702821/
https://www.ncbi.nlm.nih.gov/pubmed/31485359
http://dx.doi.org/10.1155/2019/9650184

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702821/
https://www.ncbi.nlm.nih.gov/pubmed/31485359
http://dx.doi.org/10.1155/2019/9650184

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