| 000 | 01298 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250514160557.0 | ||
| 264 | 0 | _c20040527 | |
| 008 | 200405s 0 0 eng d | ||
| 022 | _a0962-8827 | ||
| 024 | 7 |
_a10.1097/00019605-200310000-00012 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRossi, Massimiliano | |
| 245 | 0 | 0 |
_aThe appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. _h[electronic resource] |
| 260 |
_bClinical dysmorphology _cOct 2003 |
||
| 300 |
_a269-74 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAcrocephalosyndactylia _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFoot Deformities, Congenital _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aReceptor Protein-Tyrosine Kinases _xgenetics |
| 650 | 0 | 4 | _aReceptor, Fibroblast Growth Factor, Type 1 |
| 650 | 0 | 4 |
_aReceptors, Fibroblast Growth Factor _xgenetics |
| 650 | 0 | 4 | _aSiblings |
| 700 | 1 | _aJones, Rachel L | |
| 700 | 1 | _aNorbury, Gail | |
| 700 | 1 | _aBloch-Zupan, Agnès | |
| 700 | 1 | _aWinter, Robin M | |
| 773 | 0 |
_tClinical dysmorphology _gvol. 12 _gno. 4 _gp. 269-74 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1097/00019605-200310000-00012 _zAvailable from publisher's website |
| 999 |
_c14307014 _d14307014 |
||