present in Gene: TWIST1
present in Chromosome: 7
Position on Chromosome: 19116972
Alleles of this Variant: T/A;C
rs1554442016 in
TWIST1 gene and
SWEENEY-COX SYNDROME
PMID 28369379 2017 Here, we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p.Glu117Val and p.Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding domain of TWIST1, in two subjects with frontonasal dysplasia and additional malformations.