| 000 | 01179 a2200337 4500 | ||
|---|---|---|---|
| 005 | 20250513122214.0 | ||
| 264 | 0 | _c19970904 | |
| 008 | 199709s 0 0 eng d | ||
| 022 | _a0148-7299 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCamera, G | |
| 245 | 0 | 0 |
_aAn unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys) _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics _cJul 1997 |
||
| 300 |
_a122-3 p. _bdigital |
||
| 500 | _aPublication Type: Letter | ||
| 650 | 0 | 4 |
_aArginine _xgenetics |
| 650 | 0 | 4 |
_aCystine _xgenetics |
| 650 | 0 | 4 |
_aFetus _xdiagnostic imaging |
| 650 | 0 | 4 | _aGestational Age |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aProtein-Tyrosine Kinases |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 | _aReceptor, Fibroblast Growth Factor, Type 3 |
| 650 | 0 | 4 |
_aReceptors, Fibroblast Growth Factor _xgenetics |
| 650 | 0 | 4 |
_aThanatophoric Dysplasia _xdiagnostic imaging |
| 700 | 1 | _aBaldi, M | |
| 700 | 1 | _aBaffico, M | |
| 700 | 1 | _aPozzolo, S | |
| 773 | 0 |
_tAmerican journal of medical genetics _gvol. 71 _gno. 1 _gp. 122-3 |
|
| 999 |
_c9196142 _d9196142 |
||