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Article

Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.

Journal of cutaneous pathology - 1 Dec 2024

van Dal Mashiro, Martens-de Kemp Sanne R, Mooyaart Antien L, Voogt Walter, Wakkee Marlies, Damman Jeffrey

Abstract excerpt

BACKGROUND: One of the hereditary syndromes associated with multiple early-onset basal cell carcinomas (BCCs) is basal cell nevus syndrome (BCNS), of which a minority is caused by germline SUFU mutations. Germline SUFU mutations show a spectrum of phenotypes, of which multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC) is one. Patients with MHIBCC develop multiple basaloid skin tumors...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39276021
DOI: 10.1111/cup.14720

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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