Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients
BLOOD(2023)
摘要
Erdheim-Chester Disease (ECD) is exceptionally rare in childhood. Among 21 children with ECD, disease phenotype and mutational profile were similar to those observed in adults, although the frequency of some clinical manifestations differed. Targeted therapies were also effective in children.
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