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

CONCLUSIONS: Our study not only unveiled the association between OSBPL2 variants and the newly identified DIDA syndrome but also shed light on the underlying mechanism.PMID:38701954 | DOI:10.1016/j.bbadis.2024.167207

Source: Biochimica et Biophysica Acta - May 3, 2024 Category: Biochemistry Authors: Yumeng Wang Anqi Zhao Naihui Zhou Xiaoxiao Wang Chaolan Pan Shengru Zhou Haisheng Huang Yijun Yang Jianqiu Yang Yifan Yang Jingwen Zhang Fuying Chen Qiaoyu Cao Jingjun Zhao Si Zhang Ming Li Min Li Source Type: research