Associated Papers
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S6
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
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.
Vona B et al.
Molecular Syndromology, 2017
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I et al.
Molecular Genetics and Genomics : Mgg, 2015
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
Chen W et al.
Journal of Medical Genetics, 2005
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