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achondroplasia
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Definition
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PubMed Links
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FGFR3
Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3
COMP
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia
Cancer Gene Census
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FGFR3
Somatic tumors
bladder, MM, T-cell lymphoma
Tumor types germline
Cancer Syndrom
Translocation partner
IGH, ETV6
Name
fibroblast growth factor receptor 3
Chromosome banding
4p16.3
Cancer molecular gen.
Dom
Mutation type
Mis, T
Other syndrome disease
Hypochondroplasia, Thanatophoric dysplasia
Pathways
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ECM-receptor interaction
Homo sapiens (human)
one gene
Clinical Trials
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