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Article

Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity

19 Jun 2025

Abstract excerpt

Several autosomal-dominant monogenic disorders have been conclusively associated with mutations in TGFBR1 and TGFBR2, key receptors of the Transforming Growth Factor-β (TGFβ) signaling pathway. Although these disorders share a common cardiovascular connective tissue manifestation, different mutations present with strikingly distinctive clinical presentations leading to distinct disorders, including Loeys-Dietz...

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PMID: 40612107
DOI: 10.3389/fcell.2025.1580274

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