Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Fang Yang, Xingyuan Jiang, Yuhao Zhu, Ming-Yang Lee, Zhengren Xu, Jianglin Zhang, Qian Li, Menghan Lin, Huijun Wang, Zhimiao Lin
Topics & Concepts
Palmoplantar keratodermaLanosterolBiologyKeratodermaGeneticsGeneHyperkeratosisEndocrinologyCholesterolSterolPlant biochemistry and biosynthesisSkin and Cellular Biology ResearchCholesterol and Lipid Metabolism