A large family with CYLD cutaneous syndrome: medical genetics at the community level
Author:
Funder
INAGEMP-CNPQ
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Public Health, Environmental and Occupational Health,Epidemiology
Link
http://link.springer.com/content/pdf/10.1007/s12687-019-00447-2.pdf
Reference24 articles.
1. Atzori L, Corbeddu M, Fumo G et al (2018) Trichoepithelioma arising in a congenital melanocytic nevus of an adult: a diagnostic pitfall. Res Clin Dermatology 01. https://doi.org/10.35841/clinical-dermatology.1.1.2-4
2. Bignell GR, Warren W, Seal S et al (2000) Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 25:160–165
3. Bowen S, Gill M, Lee DA et al (2005) Mutations in the CYLD gene in Brooke–Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype–phenotype correlation. J Invest Dermatol 124:919–920
4. Cardoso GC, de Oliveira MZ, Paixão-Côrtes VR et al (2018) Clusters of genetic diseases in Brazil. J Community Genet:1–8
5. Corrêa MDP (2015) Solar ultraviolet radiation: properties, characteristics and amounts observed in Brazil and south America. An Bras Dermatol 90:297–313. https://doi.org/10.1590/abd1806-4841.20154089
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1. Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge;Genetics and Molecular Biology;2023
2. Genetic Testing in CYLD Cutaneous Syndrome: An Update;The Application of Clinical Genetics;2021-10
3. Síndrome de Brooke-Spiegler asociado a carcinoma basocelular: reporte de caso;Medicina y Laboratorio;2021-10-01
4. CYLD‐related cutaneous syndrome: variable p.Pro482fs*6 phenotype in five individuals from two unrelated families;Journal of the European Academy of Dermatology and Venereology;2020-08-11
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