Medical Knowledge Cockpit achondroplasia

FGFR3

• Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3

COMP

• Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein
• Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library
• Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

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

• Regulation of actin cytoskeleton
  Homo sapiens (human) one gene

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