Variant: rs1555360362

present in Gene: IFT43;TGFB3 present in Chromosome: 14 Position on Chromosome: 75963326 Alleles of this Variant: A/-

rs1555360362 in IFT43;TGFB3 gene and LOEYS-DIETZ SYNDROME 4 PMID 23824657 2013 A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.

PMID 22943793 2012 TGF-β - an excellent servant but a bad master.

PMID 25835445 2015 Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

PMID 1631557 1992 Crystal structure of transforming growth factor-beta 2: an unusual fold for the superfamily.