A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family

BACKGROUND: CYLD cutaneous syndrome (CCS; syn. Brooke‐Spiegler syndrome) is a rare autosomal dominant hereditary disease characterized by multiple adnexal skin tumors including cylindromas, spiradenomas, and trichoepitheliomas. More than 100 germline mutations of the cylindromatosis (CYLD) gene have...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhu, Ruizheng, Xu, Jie, Shen, Juan, Li, Wenru, Tan, Fei, Li, Changchang, Wei, Zhichen, Liu, Yeqiang, Bai, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549610/
https://www.ncbi.nlm.nih.gov/pubmed/32783365
http://dx.doi.org/10.1002/mgg3.1441

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549610/
https://www.ncbi.nlm.nih.gov/pubmed/32783365
http://dx.doi.org/10.1002/mgg3.1441

Ejemplares similares