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Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

28 Sept 2019

Abstract excerpt

Loeys-Dietz syndrome (LDS) is a connective tissue disorder first described in 2005 featuring aortic/arterial aneurysms, dissections, and tortuosity associated with craniofacial, osteoarticular, musculoskeletal, and cutaneous manifestations. Heterozygous mutations in 6 genes (TGFBR1/2, TGFB2/3, SMAD2/3), encoding components of the TGF-β pathway, cause LDS. Such genetic heterogeneity mirrors broad phenotypic...

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PMID: 31569402
DOI: 10.3390/genes10100764

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