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

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 autosomal reces...

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Detalles Bibliográficos
Autores principales: Chen, Fuying, Ni, Cheng, Wang, Xiaoxiao, Cheng, Ruhong, Pan, Chaolan, Wang, Yumeng, Liang, Jianying, Zhang, Jia, Cheng, Jinke, Chin, Y Eugene, Zhou, Yi, Wang, Zhen, Guo, Yiran, Chen, She, Htun, Stephanie, Mathes, Erin F, de Alba Campomanes, Alejandra G, Slavotinek, Anne M, Zhang, Si, Li, Ming, Yao, Zhirong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9081911/
https://www.ncbi.nlm.nih.gov/pubmed/35362222
http://dx.doi.org/10.15252/emmm.202114904

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