OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome

Autor: Wang, Yumeng, Zhao, Anqi, Zhou, Naihui, Wang, Xiaoxiao, Pan, Chaolan, Zhou, Shengru, Huang, Haisheng, Yang, Yijun, Yang, Jianqiu, Yang, Yifan, Zhang, Jingwen, Chen, Fuying, Cao, Qiaoyu, Zhao, Jingjun, Zhang, Si, Li, Ming, Li, Min
Zdroj: In BBA - Molecular Basis of Disease June 2024 1870(5)
Databáze: ScienceDirect