Loeys-Dietz Syndrome Type 4

About the Disease
Loeys-Dietz Syndrome 4, also known as lds4, is related to loeys-dietz syndrome 1 and marfan syndrome, and has symptoms including wrist sign and steinberg thumb sign. An important gene associated with Loeys-Dietz Syndrome 4 is TGFB2 (Transforming Growth Factor Beta 2), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin, lung and artery-aorta, and related phenotypes are scoliosis and ptosis

Common Targets
FBN1 | TGFB3

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