| Name | fibroblast growth factor receptor |
|---|---|
| Synonyms | BEK; Hydroxyaryl protein kinase; Tyrosylprotein kinase; CFD1; BEK fibroblast growth factor receptor; BFR 1; BFR1; Bacteria expressed kinase… |
| Name | HCH |
|---|---|
| CAS | 1,2,3,4,5,6-hexachlorocyclohexane |
| PubMed | Abstract | RScore(About this table) | |
|---|---|---|---|
| 9672519 | Ramaswami U, Rumsby G, Hindmarsh PC, Brook CG: Genotype and phenotype in hypochondroplasia. . J Pediatr. 1998 Jul;133(1):99-102. Mutations in the kinase domain of fibroblast growth factor receptor gene (FGFR3) have been described in some cases of hypochondroplasia (Hch). |
31(0,1,1,1) | Details |
| 17256796 | Santos HG, Almeida M, Fernandes H, Wilkie AO: Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. Am J Med Genet A. 2007 Feb 15;143(4):355-9. Here we report on a mother and daughter with hypochondroplasia (Hch) caused by a new heterozygous double mutation (1138_1139GG > AA) at the same codon 380, but encoding instead of the usual Several other rare double mutations were previously described in both FGFR2 and FGFR3 and interpreted as resulting from positive selection of spermatogonial cells owing to gain-of-function in the encoded protein [Goriely et al., 2005; Proc Natl Acad Sci USA 102:6051-6056]. |
1(0,0,0,1) | Details |
| 10564875 | Huggins MJ, Mernagh JR, Steele L, Smith JR, Nowaczyk MJ: Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus. Am J Med Genet. 1999 Nov 26;87(3):226-9. Hypochondroplasia (HCH) is caused by mutations in the fibroblast growth factor receptor type 3 (FGFR 3). |
1(0,0,0,1) | Details |