A recurrent mutation in the KRT17 gene responsible for severe steatocystoma multiplex in a large Chinese family

Clin Exp Dermatol. 2018 Mar;43(2):205-208. doi: 10.1111/ced.13311. Epub 2017 Dec 8.

Authors

J Wang^{1

2}, J Li^{1

2}, X Li^{1

2}, D Lei^{1

2}, W Xiao³, Z Li^{1

2}, S Zhang^{1

2}, M Li⁴

Affiliations

¹ Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
² Department of Cardiology, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
³ Department of Dermatology, Zhengzhou University People's Hospital, Zhengzhou, Henan, China.
⁴ Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.

PMID: 29218738
DOI: 10.1111/ced.13311

No abstract available

Publication types

Letter

MeSH terms

Biopsy
China
DNA Mutational Analysis
Female
Humans
Keratin-17 / genetics*
Male
Middle Aged
Mutation*
Pedigree
Skin / pathology
Steatocystoma Multiplex / genetics*
Steatocystoma Multiplex / pathology

Substances

KRT17 protein, human
Keratin-17