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Region Hovedstaden - en del af Københavns Universitetshospital
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Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

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DOI

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Vis graf over relationer

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 the SUFU gene c.954del, p.Asn319Thrfs∗42 leading to meningiomas and multiple basal cell-carcinomas.

OriginalsprogEngelsk
TidsskriftCase Reports in Genetics
Vol/bind2019
Sider (fra-til)9650184
ISSN2090-6544
DOI
StatusUdgivet - 2019

ID: 58312570