| 000 | 01576 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250513105233.0 | ||
| 264 | 0 | _c19970304 | |
| 008 | 199703s 0 0 eng d | ||
| 022 | _a1018-4813 | ||
| 024 | 7 |
_a10.1159/000472215 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPulleyn, L J | |
| 245 | 0 | 0 |
_aSpectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c1996 |
||
| 300 |
_a283-91 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCraniosynostoses _xdiagnostic imaging |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 |
_aReceptor Protein-Tyrosine Kinases _xgenetics |
| 650 | 0 | 4 | _aReceptor, Fibroblast Growth Factor, Type 2 |
| 650 | 0 | 4 |
_aReceptors, Fibroblast Growth Factor _xgenetics |
| 700 | 1 | _aReardon, W | |
| 700 | 1 | _aWilkes, D | |
| 700 | 1 | _aRutland, P | |
| 700 | 1 | _aJones, B M | |
| 700 | 1 | _aHayward, R | |
| 700 | 1 | _aHall, C M | |
| 700 | 1 | _aBrueton, L | |
| 700 | 1 | _aChun, N | |
| 700 | 1 | _aLammer, E | |
| 700 | 1 | _aMalcolm, S | |
| 700 | 1 | _aWinter, R M | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 4 _gno. 5 _gp. 283-91 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1159/000472215 _zAvailable from publisher's website |
| 999 |
_c8938483 _d8938483 |
||