Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia

Hum Genet. 2008 Oct;124(3):310-1.

Authors

Zehra Oya Uyguner¹, Hulya Kayserili

Affiliation

¹ Istanbul University, Istanbul Medical Faculty, Medical Genetics, Millet Caddesi, Capa, Fatih, 034104 Istanbul, Turkey. o.uyguner@istanbul.edu.tr

PMID: 18846651

No abstract available

MeSH terms

Abnormalities, Multiple / genetics*
Codon / genetics*
Collagen Type XI / genetics*
Gene Deletion*
Hearing Loss / genetics*
Humans
Osteochondrodysplasias / genetics*

Substances

COL11A2 protein, human
Codon
Collagen Type XI