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Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease

3 Nov 2025

Abstract excerpt

Myhre syndrome is a rare, multisystemic disorder caused by gain-of-function mutations in the SMAD4 gene, a key component of the TGF-β signaling pathway. These mutations lead to manifestations affecting neurodevelopment, bone and joint development, fibrosis and stenosis, immune responses, reproductive health, and cardiac function. The Myhre Syndrome Foundation (MSF) is a patient-centered organization focused on...

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PMID: 41185139
DOI: 10.1002/ajmg.c.32156

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