| 000 | 01710 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250515091858.0 | ||
| 264 | 0 | _c20080122 | |
| 008 | 200801s 0 0 eng d | ||
| 022 | _a0009-9163 | ||
| 024 | 7 |
_a10.1111/j.1399-0004.2007.00905.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWieland, I | |
| 245 | 0 | 0 |
_aContiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. _h[electronic resource] |
| 260 |
_bClinical genetics _cDec 2007 |
||
| 300 |
_a506-16 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xgenetics |
| 650 | 0 | 4 |
_aCytoskeletal Proteins _xdeficiency |
| 650 | 0 | 4 |
_aDNA Primers _xgenetics |
| 650 | 0 | 4 |
_aEctodysplasins _xdeficiency |
| 650 | 0 | 4 |
_aEphrin-B1 _xdeficiency |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGTPase-Activating Proteins _xdeficiency |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aNuclear Proteins _xdeficiency |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aUbiquitin-Protein Ligases _xdeficiency |
| 700 | 1 | _aWeidner, C | |
| 700 | 1 | _aCiccone, R | |
| 700 | 1 | _aLapi, E | |
| 700 | 1 | _aMcDonald-McGinn, D | |
| 700 | 1 | _aKress, W | |
| 700 | 1 | _aJakubiczka, S | |
| 700 | 1 | _aCollmann, H | |
| 700 | 1 | _aZuffardi, O | |
| 700 | 1 | _aZackai, E | |
| 700 | 1 | _aWieacker, P | |
| 773 | 0 |
_tClinical genetics _gvol. 72 _gno. 6 _gp. 506-16 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.2007.00905.x _zAvailable from publisher's website |
| 999 |
_c17462151 _d17462151 |
||