Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.

Archives of dermatological research - 1 Sept 2018

Parren Lizelotte J M T, Giehl Kathrin, van Geel Michel, Frank Jorge

Abstract excerpt

Mutations in the tumor suppressor gene CYLD underlie phenotypically heterogeneous hereditary tumor disorders of the skin appendages. These diseases are inherited autosomal dominantly and include Brooke-Spiegler syndrome (BSS; OMIM 605041), familial cylindromatosis (FC; OMIM 132700) and multiple familial trichoepithelioma (MFT; OMIM 601606). Clinically, cylindromas, trichoepitheliomas and spiradenomas can be found...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biomarkers, Tumor
Share to Carcinoma, Adenoid Cystic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deubiquitinating Enzyme CYLD

Share to DNA Mutational Analysis

Share to Genetic Predisposition to Disease

Share to Neoplastic Syndromes, Hereditary

Share to Polymerase Chain Reaction

Share to Skin Neoplasms

Source

Identifiers

PMID: 29974194
DOI: 10.1007/s00403-018-1848-2

Genes

CYLD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.PMID 29974194Read ↗

Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.Semantic proximity Read ↗

Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.Semantic proximity Read ↗

CYLD mutations in familial skin appendage tumoursSemantic proximity Read ↗

A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.Semantic proximity Read ↗

CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.Semantic proximity Read ↗

Genetic Testing in CYLD Cutaneous Syndrome: An UpdateSemantic proximity Read ↗

Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.Semantic proximity Read ↗

Brooke-Spiegler Syndrome and Phenotypic Variants: An Update.Semantic proximity Read ↗

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.Semantic proximity Read ↗

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.Semantic proximity Read ↗

Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma.Semantic proximity Read ↗

Brooke-Spiegler Syndrome: Report of 10 Patients From 8 Families With Novel Germline MutationsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.