Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.
Luc CozijnsenAstrid S PlompJan G PostGerard PalsNatalija BogunovicKak K YeungHans W M NiessenMarie-José T H GoumansDaniela Q C M Barge-SchaapveldDimitra MichaPublished in: Molecular genetics & genomic medicine (2019)
Our findings confirm the pathogenic effect of the TGFBR1 mutation in causing TAAD in Loeys-Dietz syndrome and show increased myogenic differentiation of patient fibroblasts.
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