present in Gene: TGFB3;IFT43
present in Chromosome: 14
Position on Chromosome: 75959200
Alleles of this Variant: C/T
rs398122984 in
TGFB3;IFT43 gene and
RIENHOFF SYNDROME
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.