Article
The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree.
Journal of dermatological science - 1 Apr 2022
Gao Xiaojie, Li Hua, Zhao Songhua, Li Xiabin, Zhao Jiao, Long Yang, Zhang Jun, Liao Yongmei, Li Shengbiao, Guo Kai, Yi Jingyan, Chen Shaokun, Ma Mingyi
Abstract excerpt
BACKGROUND: Loricrin keratoderma is a rare early-onset autosomal dominant skin disorder. At present, no clinical reports have been published on characteristics of progressive aggravation and late-onset. OBJECTIVES: To identified a new-found pedigree with c.323 G>C mutation leading to progressive aggravation and late-onset loricrin keratoderma. METHODS: Targeted next-generation sequencing of 267 genes associated...
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