Genotype-Phenotype Correlation Insights Through Molecular Modeling Analysis in a Patient with Loeys-Dietz Syndrome
Genes(2025)
关键词
Loeys-Dietz syndrome,transforming growth factor β,TGF-β2 mutations,marfanoid habitus,aortic aneurysms,vascular tortuosity,craniofacial anomalies,skeletal anomalies
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