S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis‐like syndrome

S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis‐like syndrome

Abstract In this report, we discovered a new entity named cataract, alopecia, oral mucosal disorder, and psoriasis‐like (CAOP) syndrome in two unrelated and ethnically diverse patients. Furthermore, patient 1 failed to respond to regular treatment. We found that CAOP syndrome was caused by an autoso...

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Bibliographic Details
Main Authors: Fuying Chen, Cheng Ni, Xiaoxiao Wang, Ruhong Cheng, Chaolan Pan, Yumeng Wang, Jianying Liang, Jia Zhang, Jinke Cheng, Y Eugene Chin, Yi Zhou, Zhen Wang, Yiran Guo, She Chen, Stephanie Htun, Erin F Mathes, Alejandra G de Alba Campomanes, Anne M Slavotinek, Si Zhang, Ming Li, Zhirong Yao
Format: Article
Language:English
Published: Springer Nature 2022-04-01
Series:EMBO Molecular Medicine
Subjects:
CAOP
electron transfer flavoprotein
MBTPS1
mitochondrial respiratory chain reaction
Online Access:https://doi.org/10.15252/emmm.202114904
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