The Noonan Syndrome Gene Lztr1 Controls Cardiovascular Function by Regulating Vesicular Trafficking.

Conclusions: Lztr1 deletion phenotypically overlaps with bleeding diathesis observed in NS patients. ELISA screening of soluble VEGFR2 in the blood of LZTR1-mutated NS patients may predict both the severity of NS phenotypes and potential responders to anti-VEGF therapy. VEGFR inhibitors could be beneficial for the treatment of bleeding disorders in NS patients. PMID: 32175818 [PubMed - as supplied by publisher]
Source: Circulation Research - Category: Cardiology Authors: Tags: Circ Res Source Type: research