. . . . . . . . . . . . "[Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth factor (TGF)-I2 signaling but is often caused by heterozygous mutations in genes encoding positive effectors of TGF-I2 signaling, including either subunit of the TGF-I2 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 . . . . . "2015-02-21"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2015-08-25T14:37:57+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .