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  • A rare inherited form of myofibromatosis caused by autosomal dominant mutation(s) in the NOTCH3 gene, encoding neurogenic locus notch homolog protein 3. The condition is characterized by the onset of solitary or multicentric benign tumors in the skin, striated muscles, bones, and viscera. Soft tissue lesions may regress spontaneously whereas visceral lesions are associated with high morbidity and mortality.
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