| 000 | 01460 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250513105614.0 | ||
| 264 | 0 | _c19970328 | |
| 008 | 199703s 0 0 eng d | ||
| 022 | _a1059-7794 | ||
| 024 | 7 |
_a10.1002/(SICI)1098-1004(1996)8:4<386::AID-HUMU18>3.0.CO;2-Z _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSteinberger, D | |
| 245 | 0 | 0 |
_aCrouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. _h[electronic resource] |
| 260 |
_bHuman mutation _c1996 |
||
| 300 |
_a386-90 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 10 |
| 650 | 0 | 4 |
_aCraniofacial Dysostosis _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMultigene Family |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPoint Mutation |
| 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 |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aMulliken, J B | |
| 700 | 1 | _aMüller, U | |
| 773 | 0 |
_tHuman mutation _gvol. 8 _gno. 4 _gp. 386-90 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/(SICI)1098-1004(1996)8:4<386::AID-HUMU18>3.0.CO;2-Z _zAvailable from publisher's website |
| 999 |
_c8948021 _d8948021 |
||