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
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.
Vona B et al.
Molecular Syndromology, 2017
Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.
Xia W et al.
Frontiers of Medicine, 2016
Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia.
Uyguner ZO et al.
Human Genetics, 2008
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.
Chen W et al.
Journal of Medical Genetics, 2005
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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