• 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
• Exon-Trapping Assay Improves Clinical Interpretation of <em>COL11A1</em> and <em>COL11A2</em> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia
• Otospondylomegaepiphyseal Dysplasia: A Case Report of Clinical and Radiographic Findings