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Any overgrowth syndrome in which the cause of the disease is a pathogenic gain-of-function variants in the MTOR gene. The variants can be germline or somatic.
No clinical trials have been registered for MTOR-related overgrowth spectrum.
4 publications have been identified in PubMed for MTOR-related overgrowth spectrum. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).
Xiong F (2026). [PMID: 41724598](https://pubmed.ncbi.nlm.nih.gov/41724598/). *Am J Med Genet A*. [Basic Science / Preclinical]
Vittay O (2025). [PMID: 39254838](https://pubmed.ncbi.nlm.nih.gov/39254838/). *Skeletal Radiol*. [Review / Meta-Analysis]
Nye JR (2024). [PMID: 40463925](https://pubmed.ncbi.nlm.nih.gov/40463925/). *Eplasty*. [Case Report / Case Series]
Bellucca S (2024). [PMID: 38945442](https://pubmed.ncbi.nlm.nih.gov/38945442/). *J Pediatr*. [Basic Science / Preclinical]
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 2:52 PM UTC
Common questions about MTOR-related overgrowth spectrum