ArticleInternational medical case reports journal2025
A Novel Mutation of
Article in International medical case reports journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that is characterized by vascular and skeletal abnormalities. LDS, classified into six subtypes (LDS1-6), is caused by mutations in the genes encoding proteins involved in the transforming growth factor-beta (TGF-β) signaling pathway. LDS4 is the mild form of the LDS spectrum, considering that aneurysms are observed in the fourth decade and the disease progression is slower than the other forms. Case Presentation: We reported the case of a novel Conclusion: The pedigree analysis highlighted the high clinical variability of LDS signs even within the same family. In addition,
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