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Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature review

BACKGROUND: Some juvenile idiopathic arthritis (JIA) patients have a familial aggregation of the disease, and a few have been found to have a juvenile arthritis (JA) phenotype caused by a genetic mutation. JA due to LACC1 defects is a rare condition and it was never reported in China. METHODS: The c...

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Detalles Bibliográficos
Autores principales: Wu, Yali, Wang, Shasha, Yin, Wen, Yin, Wei, Ding, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337277/
https://www.ncbi.nlm.nih.gov/pubmed/37186377
http://dx.doi.org/10.1002/mgg3.2175