Article
Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.
Journal of human genetics - 1 Jul 2026
Chida Rie, Kawahara Genri, Nakayashiki Mami, Kawashima Hisashi, Yamanaka Gaku, Hayashi Yukiko K
Abstract excerpt
Loeys-Dietz syndrome (LDS), an autosomal dominant connective tissue disorder, was initially considered "atypical" Marfan syndrome (MFS). MFS is caused by mutations in FBN1 encoding fibrillin 1, which binds to transforming growth factor β (TGF-β) to inhibit it from binding to TGF-β receptors. In contrast, LDS is caused by mutations in TGF-β-related genes, including TGFBR2. Some clinical symptoms of LDS, including...
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