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.