. . . . . . . . . . . . "[Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth factor (TGF)- signaling but is often caused by heterozygous mutations in genes encoding positive effectors of TGF- signaling, including either subunit of the TGF- receptor or SMAD3, thereby engendering controversy regarding the mechanism of disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2013-07-24"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2014-10-02T12:32:13+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .