FGFRs
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| FGFR1 | FGFR2 | FGFR3 | FGFR4 |
Pathology
- germline mutations in
- Pfeiffer syndrome (MIM.101600)
- Kallmann syndrome with or without cleft palate (MIM.147950)
- FGFR1 rearrangement in proliferations
- germ-line mutations in Crouzon syndrome (MIM.123500)
- germ-line mutations in Apert syndrome (MIM.101200)
- germ-line mutations in Beare-Stevenson cutis gyrata syndrome (MIM.123790)
- constitutional activating mutations in
- several autosomal dominant craniosynostosis syndromes
- chondrodysplasias
- hypochondroplasia
- achondroplasia
- SADDAN
- thanatophoric dysplasia
-
somatic mutations in
- vesical carcinoma (bladder carcinoma)
- myeloma
- uterine cervical carcinoma
FGFR4
FGFRs mutations in osteoglophonic dysplasia
References
Coumoul X, Deng CX. Roles of FGF receptors in mammalian development and congenital diseases. Birth Defects Res Part C Embryo Today. 2003 Nov;69(4):286-304. PMID: 14745970
Webster MK, Donoghue DJ. FGFR activation in skeletal disorders: too much of a good thing. Trends Genet. 1997 May;13(5):178-82. PMID: 9154000