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

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

Abstract 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) g...

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Bibliographic Details
Main Authors: Ruizheng Zhu, Jie Xu, Juan Shen, Wenru Li, Fei Tan, Changchang Li, Zhichen Wei, Yeqiang Liu, Yun Bai
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CYLD cutaneous syndrome
CYLD gene
large deletion
multiple familial trichoepithelioma
mutation
Online Access:https://doi.org/10.1002/mgg3.1441

Internet

https://doi.org/10.1002/mgg3.1441

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