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Article

Childhood Ayme-Gripp syndrome: A case report.

The Journal of international medical research - 1 May 2026

Xu Jingting, Song Xiao, Jia Wei, Zou Chaochun

Abstract excerpt

Ayme-Gripp syndrome is a rare genetic disorder caused by mutations in the musculoaponeurotic fibrosarcoma gene. This report presents a detailed case of a 12-year-old boy with Ayme-Gripp syndrome who was found to carry a pathogenic c.176C>A (p.Pro59His) variant in the musculoaponeurotic fibrosarcoma gene. His clinical phenotype included the most severe short stature documented to date as well as previously...

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PMID: 42219244
DOI: 10.1177/03000605261448760
PMCID: PMC13226966

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