Case report: COPA syndrome with interstitial lung disease, skin involvement, and neuromyelitis spectrum disorder

This report describes a case of a 22 months Chinese boy with COPA syndrome bearing the c.715G > C (p.A239P) genotype. In addition to interstitial lung diseae, he also suffered from recurrent chilblain-like rashes, which has not been previously reported, and neuromyelitis optica spectrum disorder...

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Detalles Bibliográficos
Autores principales: Li, Xiao, Tang, Yu, Zhang, Lei, Wang, Yuan, Zhang, Weihua, Wang, Ying, Shen, Yuelin, Tang, Xiaolei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10034176/
https://www.ncbi.nlm.nih.gov/pubmed/36969269
http://dx.doi.org/10.3389/fped.2023.1118097

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