Disease: OSMED Syndrome
- A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis
- A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient
- Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2
- Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene
- Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature
- Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in <em>COL11A2</em>
- Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2
- COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)
- Difficult Airway Management in Osmed Syndrome
- Exon-Trapping Assay Improves Clinical Interpretation of <em>COL11A1</em> and <em>COL11A2</em> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
- Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
- Genetic characteristics of hearing disorders in changes in genes responsible for collagen synthesis
- Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymuller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)
- Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene
- Otospondylomegaepiphyseal Dysplasia: A Case Report of Clinical and Radiographic Findings
- Otospondylomegaepiphyseal dysplasia: report of three sibs and review of the literature
- Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED)
- The type XI collagenopathies