Condition: Achondrogenesis type 2


rs121912878 in COL2A1 gene and Achondrogenesis type 2 PMID 7757086 1995 Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

PMID 10797431 2000 Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

PMID 10745044 2000 Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

PMID 17994563 2007 "A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."

PMID 15054848 2004 Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.

PMID 7757081 1995 A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.

PMID 2572591 1989 Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.

PMID 7829510 1995 A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.

rs121912879 in COL2A1;LOC105369752 gene and Achondrogenesis type 2 PMID 10745044 2000 Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

PMID 7757086 1995 Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

PMID 17994563 2007 "A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and ""patchy"" expression in the mosaic father."

PMID 2572591 1989 Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.

PMID 15054848 2004 Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.

PMID 10797431 2000 Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.

PMID 7829510 1995 A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.

PMID 7757081 1995 A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.