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Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission

BACKGROUND: Clusters of rare cylindroma or spiradenoma tumors are a recurrent clinical presentation, yet conventional genetic testing results in individuals with these tumors are frequently normal. OBJECTIVE: To determine if genetic mosaicism accounts for such cases. METHODS: A study of 6 cases from...

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Detalles Bibliográficos
Autores principales: Arefi, Majid, Wilson, Valerie, Muthiah, Siobhan, Zwolinski, Simon, Bajwa, Dalvir, Brennan, Paul, Blasdale, Katie, Bourn, David, Burn, John, Santibanez-Koref, Mauro, Rajan, Neil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mosby 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878220/
https://www.ncbi.nlm.nih.gov/pubmed/31085270
http://dx.doi.org/10.1016/j.jaad.2019.05.021