Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome

Brooke–Spiegler Syndrome (BSS) is a rare genodermatosis characterized by the progressive formation of adnexal skin tumors in the scalp and face, mainly trichoepitheliomas, cylindromas, and spiradenomas. It has also been associated with salivary glands neoplasms. It is due to mutations in the tumor s...

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Detalles Bibliográficos
Autores principales: Aguilera, Cintia Arjona, De la Varga Martínez, Raquel, García, Lidia Ossorio, Jiménez-Gallo, David, Planelles, Cristina Albarrán, Barrios, Mario Linares
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
E-IJD Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5029256/
https://www.ncbi.nlm.nih.gov/pubmed/27688459
http://dx.doi.org/10.4103/0019-5154.190127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5029256/
https://www.ncbi.nlm.nih.gov/pubmed/27688459
http://dx.doi.org/10.4103/0019-5154.190127

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