A novel splicing CYLD variant associated with trichoepithelioma papulosum multiplex demonstrating intrafamilial severity variability
Author:
Affiliation:
1. Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan
2. Department of Dermatology Asahi University Hospital Gifu Japan
3. Department of Dermatology Gifu University Graduate School of Medicine Gifu Japan
Funder
Ministry of Health, Labour and Welfare
Publisher
Wiley
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.17182
Reference4 articles.
1. Phenotype–genotype correlations for clinical variants caused by CYLD mutations
2. Novel and Recurrent Germline and Somatic Mutations in a Cohort of 67 Patients From 48 Families With Brooke–Spiegler Syndrome Including the Phenotypic Variant of Multiple Familial Trichoepitheliomas and Correlation With the Histopathologic Findings in 379 Biopsy Specimens
3. Mutations in the CYLD gene in Brooke–Spiegler Syndrome, Familial Cylindromatosis, and Multiple Familial Trichoepithelioma: Lack of Genotype–Phenotype Correlation
4. CYLD‐related cutaneous syndrome: variable p.Pro482fs*6 phenotype in five individuals from two unrelated families
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