| 000 | 01732 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250513124346.0 | ||
| 264 | 0 | _c19971006 | |
| 008 | 199710s 0 0 eng d | ||
| 022 | _a0022-2593 | ||
| 024 | 7 |
_a10.1136/jmg.34.8.632 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aReardon, W | |
| 245 | 0 | 0 |
_aCraniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cAug 1997 |
||
| 300 |
_a632-6 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAcrocephalosyndactylia _xgenetics |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aArginine _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCraniosynostoses _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblast Growth Factors _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aProline _xgenetics |
| 650 | 0 | 4 | _aProtein-Tyrosine Kinases |
| 650 | 0 | 4 | _aReceptor, Fibroblast Growth Factor, Type 3 |
| 650 | 0 | 4 |
_aReceptors, Fibroblast Growth Factor _xgenetics |
| 700 | 1 | _aWilkes, D | |
| 700 | 1 | _aRutland, P | |
| 700 | 1 | _aPulleyn, L J | |
| 700 | 1 | _aMalcolm, S | |
| 700 | 1 | _aDean, J C | |
| 700 | 1 | _aEvans, R D | |
| 700 | 1 | _aJones, B M | |
| 700 | 1 | _aHayward, R | |
| 700 | 1 | _aHall, C M | |
| 700 | 1 | _aNevin, N C | |
| 700 | 1 | _aBaraister, M | |
| 700 | 1 | _aWinter, R M | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 34 _gno. 8 _gp. 632-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.34.8.632 _zAvailable from publisher's website |
| 999 |
_c9258979 _d9258979 |
||