Associated Papers
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V et al.
Journal of Medical Genetics, 2022
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
Guerrini-Rousseau L et al.
Journal of Medical Genetics, 2022
35768194 (PubMed )
Supplement: jmedgenet-2021-108385supp005.pdf
Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Guerrini-Rousseau L et al.
Neuro-oncology, 2018
Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation.
Kijima C et al.
Familial Cancer, 2012
Retrospective family study of childhood medulloblastoma.
Ng D et al.
American Journal of Medical Genetics. Part A, 2005
Mutations in SUFU predispose to medulloblastoma.
Taylor MD et al.
Nature Genetics, 2002
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