| 000 | 01823 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250516073654.0 | ||
| 264 | 0 | _c20120921 | |
| 008 | 201209s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2011.275 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBabovic-Vuksanovic, D | |
| 245 | 0 | 0 |
_aMultiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cJun 2012 |
||
| 300 |
_a618-25 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aFace _xabnormalities |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMarfan Syndrome _xpathology |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNerve Sheath Neoplasms _xpathology |
| 650 | 0 | 4 |
_aNeurofibromatoses _xpathology |
| 650 | 0 | 4 |
_aPain _xgenetics |
| 650 | 0 | 4 |
_aSchwann Cells _xmetabolism |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aMessiaen, Ludwine | |
| 700 | 1 | _aNagel, Christoph | |
| 700 | 1 | _aBrems, Hilde | |
| 700 | 1 | _aScheithauer, Bernd | |
| 700 | 1 | _aDenayer, Ellen | |
| 700 | 1 | _aMao, Rong | |
| 700 | 1 | _aSciot, Raf | |
| 700 | 1 | _aJanowski, Karen M | |
| 700 | 1 | _aSchuhmann, Martin U | |
| 700 | 1 | _aClaes, Kathleen | |
| 700 | 1 | _aBeert, Eline | |
| 700 | 1 | _aGarrity, James A | |
| 700 | 1 | _aSpinner, Robert J | |
| 700 | 1 | _aStemmer-Rachamimov, Anat | |
| 700 | 1 | _aGavrilova, Ralitza | |
| 700 | 1 | _aVan Calenbergh, Frank | |
| 700 | 1 | _aMautner, Victor | |
| 700 | 1 | _aLegius, Eric | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 20 _gno. 6 _gp. 618-25 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2011.275 _zAvailable from publisher's website |
| 999 |
_c21473808 _d21473808 |
||