Article
Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature review.
Molecular genetics & genomic medicine - 1 Jul 2023
Wu Yali, Wang Shasha, Yin Wen, Yin Wei, Ding Yan
Abstract excerpt
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 clinical and molecular characteristics of a child with LACC1 gene mutation-related juvenile arthritis, diagnosed by...
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