PMID 22246659 2012 Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
PMID 10733181 2000 The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.
PMID 9188673 1997 Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
PMID 7859284 1995 Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.
PMID 8838804 1996 The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.
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 9506662 1998 Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
PMID 21671392 2011 A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
PMID 2463256 1989 Cartilage contains mixed fibrils of collagen types II, IX, and XI.
PMID 813535 1975 The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.
PMID 2760050 1989 The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.
PMID 16033917 2005 Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
PMID 9805126 1998 Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
PMID 16637051 2006 Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
PMID 10677296 2000 Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
rs797044915 in
COL11A2 gene and
Multiple congenital anomalies
PMID 9506662 1998 Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.
PMID 9805126 1998 Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).
PMID 22246659 2012 Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
PMID 2463256 1989 Cartilage contains mixed fibrils of collagen types II, IX, and XI.
PMID 7859284 1995 Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
PMID 9188673 1997 Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
PMID 813535 1975 The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.
PMID 8838804 1996 The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.
PMID 2760050 1989 The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.
PMID 10581026 1999 Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
PMID 10677296 2000 Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
PMID 10733181 2000 The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.
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 16637051 2006 Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
PMID 16033917 2005 Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
PMID 21671392 2011 A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.