Xcode Life

Condition: LOEYS-DIETZ SYNDROME 4

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.

rs387907278 in TGFB2 gene and LOEYS-DIETZ SYNDROME 4

PMID 22772371 2012 TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.

PMID 22772368 2012 Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.

rs1566682530 in TGFB3;IFT43 gene and LOEYS-DIETZ SYNDROME 4

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

PMID 26184463 2015 Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.

PMID 24798638 2014 De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.