Gene symbol: COL11A2. Disease: Otospondylomegaepiphyseal dysplasia.
Uyguner
Zehra Oya
ZO
Istanbul University, Istanbul Medical Faculty, Medical Genetics, Millet Caddesi, Capa, Fatih, 034104 Istanbul, Turkey. o.uyguner@istanbul.edu.tr
Kayserili
Hulya
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D003062:Codon / Q000235:genetics*; D024161:Collagen Type XI / Q000235:genetics*; D017353:Gene Deletion; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D010009:Osteochondrodysplasias / Q000235:genetics*
C499319:COL11A2 protein, human; D003062:Codon; D024161:Collagen Type XI