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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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Detalhes bibliográficos
Publicado no:Indian J Dermatol
Main Authors: Aguilera, Cintia Arjona, De la Varga Martínez, Raquel, García, Lidia Ossorio, Jiménez-Gallo, David, Planelles, Cristina Albarrán, Barrios, Mario Linares
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5029256/
https://ncbi.nlm.nih.gov/pubmed/27688459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0019-5154.190127
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