H00505 | |
H number | H00505 |
Name | FGFR3-related short limb skeletal dysplasia |
Description | FGFR3-related short limb skeletal dysplasias are a group of dwarfisms ranging from mild to lethal at the severe end. FGFR3 mutations cause these conditions by disrupting endochondral bone growth. |
Category | Congenital malformation |
Network | - |
Gene | FGFR3 [HSA:2261] [KO:K05094] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD24.0 ICD-10: Q77.4 MeSH: D000130 D013796 OMIM: 100800 146000 187600 187601 616482 |
Reference | PMID:12357475 AUTHORS Cohen MM Jr TITLE Some chondrodysplasias with short limbs: molecular perspectives. JOURNAL Am J Med Genet 112:304-13 (2002) DOI:10.1002/ajmg.10780 PMID:10885578 AUTHORS McIntosh I, Bellus GA, Jab EW TITLE The pleiotropic effects of fibroblast growth factor receptors in mammalian development. JOURNAL Cell Struct Funct 25:85-96 (2000) DOI:10.1247/csf.25.85 |