Heterozygous cylindromatosis gene mutation c.1628_1629delCT in a family with brook-spiegler syndrome

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...

Full description

Bibliographic Details
Main Authors: Cintia Arjona Aguilera, Raquel De la Varga Martínez, Lidia Ossorio García, David Jimenez-Gallo, Cristina Albarrán Planelles, Mario Linares Barrios
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:Indian Journal of Dermatology
Subjects:
Brooke–Spiegler syndrome
cylindromatosis protein
familial cylindromatosis
genodermatosis
trichoepithelioma multiple familial
Online Access:http://www.e-ijd.org/article.asp?issn=0019-5154;year=2016;volume=61;issue=5;spage=580;epage=580;aulast=Aguilera

Internet

http://www.e-ijd.org/article.asp?issn=0019-5154;year=2016;volume=61;issue=5;spage=580;epage=580;aulast=Aguilera

Similar Items