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

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Standard

Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome. / Askaner, Gustav; Lei, Ulrikke; Bertelsen, Birgitte; Venzo, Alessandro; Wadt, Karin.

I: Case Reports in Genetics, Bind 2019, 9650184, 2019.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Askaner, G, Lei, U, Bertelsen, B, Venzo, A & Wadt, K 2019, 'Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome', Case Reports in Genetics, bind 2019, 9650184. https://doi.org/10.1155/2019/9650184

APA

Askaner, G., Lei, U., Bertelsen, B., Venzo, A., & Wadt, K. (2019). Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome. Case Reports in Genetics, 2019, [9650184]. https://doi.org/10.1155/2019/9650184

Vancouver

Askaner G, Lei U, Bertelsen B, Venzo A, Wadt K. Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome. Case Reports in Genetics. 2019;2019. 9650184. https://doi.org/10.1155/2019/9650184

Author

Askaner, Gustav ; Lei, Ulrikke ; Bertelsen, Birgitte ; Venzo, Alessandro ; Wadt, Karin. / Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome. I: Case Reports in Genetics. 2019 ; Bind 2019.

Bibtex

@article{341706aefca94afcacfe32597f5b2855,
title = "Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome",
abstract = "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.",
author = "Gustav Askaner and Ulrikke Lei and Birgitte Bertelsen and Alessandro Venzo and Karin Wadt",
year = "2019",
doi = "10.1155/2019/9650184",
language = "English",
volume = "2019",
journal = "Case Reports in Genetics",
issn = "2090-6544",
publisher = "Hindawi Publishing Corporation",

}

RIS

TY - JOUR

T1 - Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome

AU - Askaner, Gustav

AU - Lei, Ulrikke

AU - Bertelsen, Birgitte

AU - Venzo, Alessandro

AU - Wadt, Karin

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

U2 - 10.1155/2019/9650184

DO - 10.1155/2019/9650184

M3 - Journal article

C2 - 31485359

VL - 2019

JO - Case Reports in Genetics

JF - Case Reports in Genetics

SN - 2090-6544

M1 - 9650184

ER -

ID: 236665543