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otospondylomegaepiphyseal dysplasia
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COL2A1
Somatic tumors
chondrosarcoma, enchondroma
Tumor types germline
Cancer Syndrom
Translocation partner
Name
collagen, type II, alpha 1
Chromosome banding
12q13.11
Cancer molecular gen.
Rec
Mutation type
F, Mis, N, T
Other syndrome disease
Spondyloepiphyseal Dysplasia Congenita, Achondrogenesis Type II, Stickler Syndrome, Type I and others
Definition
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Pathways
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Clinical Trials
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PubMed Links
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COL11A2
Genetic mapping of ossification of the posterior longitudinal ligament of the spine
Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym����ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)
COL2A1
Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis