Associated Papers
Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature.
Selvam P et al.
Journal of Pediatric Genetics, 2020
Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia.
Uyguner ZO et al.
Human Genetics, 2008
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
Melkoniemi M et al.
American Journal of Human Genetics, 2000
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