Condition: STICKLER SYNDROME, TYPE II (disorder)
rs1057518666 in
COL11A1 gene and
STICKLER SYNDROME, TYPE II (disorder)
PMID 20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
PMID 10486316 1999 Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
PMID 8872475 1996 A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
PMID 27081569 2016 A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.
PMID 10725403 2000 Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine.
PMID 11668615 2001 Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta.