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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley 2022-05-01
Serie:EMBO Molecular Medicine
Soggetti:
CAOP
electron transfer flavoprotein
MBTPS1
mitochondrial respiratory chain reaction
Accesso online:https://doi.org/10.15252/emmm.202114904
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi