| 000 | 01695 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250516143831.0 | ||
| 264 | 0 | _c20150212 | |
| 008 | 201502s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2013.56 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCorsini, Carole | |
| 245 | 0 | 0 |
_aSomatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cJan 2014 |
||
| 300 |
_a136-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aFingers _xabnormalities |
| 650 | 0 | 4 | _aGenetic Counseling |
| 650 | 0 | 4 |
_aHair Diseases _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLanger-Giedion Syndrome _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 |
_aNose _xabnormalities |
| 650 | 0 | 4 | _aRepressor Proteins |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aGencik, Martin | |
| 700 | 1 | _aWillems, Marjolaine | |
| 700 | 1 | _aDecker, Eva | |
| 700 | 1 | _aSanchez, Elodie | |
| 700 | 1 | _aPuechberty, Jacques | |
| 700 | 1 | _aSchneider, Anouck | |
| 700 | 1 | _aGirard, Manon | |
| 700 | 1 | _aEdery, Patrick | |
| 700 | 1 | _aBretonnes, Patricia | |
| 700 | 1 | _aCottalorda, Jérôme | |
| 700 | 1 | _aLefort, Geneviève | |
| 700 | 1 | _aJeandel, Claire | |
| 700 | 1 | _aSarda, Pierre | |
| 700 | 1 | _aGenevieve, David | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 22 _gno. 1 _gp. 136-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2013.56 _zAvailable from publisher's website |
| 999 |
_c22655951 _d22655951 |
||