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Article

Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma.

Experimental dermatology - 1 May 2023

Zhou Shengru, Jiang Xingyuan, Zhu Yuhao, Yang Jianqiu, Yuan Chunyu, Chen Min, Zhou Qianqian, Lin Zhimiao, Li Min

Abstract excerpt

Mutilating palmoplantar keratoderma (PPK) is a heterogeneous genetic disease that poses enormous challenges to clinical diagnosis and genetic counselling. Lanosterol synthase (LSS) gene encodes LSS involved in the biosynthesis pathway of cholesterol. Biallelic mutations in LSS were found to be related to diseases such as cataracts, hypotrichosis and palmoplantar keratoderma-congenital alopecia syndrome. The aim...

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PMID: 36811447
DOI: 10.1111/exd.14774

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