Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.
that the COL11A2 gene which has previously been associated with familial osteoarthritis may play a role in pain sensitization after the development of osteoarthritis
Up to now merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes namely DFNA10 (EYA4) DFNA8/12 (TECTA) DFNA13 (COL11A2) DFNA44 (CCDC50) have been reported to date. (review)
The findings of a significant association between lip and/or palate clefts and two markers in the WNT3 and COL11A2 genes were the most consistent and were observed in all groups analysed and stratified.
Observational study of gene-disease association. (HuGE Navigator); implication of IRF6 COL2A1 and WNT3 in occurrence of nonsyndromic cleft palate (NSCP); likely variation in cartilage collagen II and XI genes IRF6 and Wnt and FGF signal pathway genes contributes susceptibility to NSCP in Northeast Europe populations
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