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

• Auteurs principaux: Cintia Arjona Aguilera (Auteur), Raquel De la Varga Martínez (Auteur), Lidia Ossorio García (Auteur), David Jimenez-Gallo (Auteur), Cristina Albarrán Planelles (Auteur), Mario Linares Barrios (Auteur)
• Format: Livre
• Publié: Wolters Kluwer Medknow Publications, 2016-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

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...