| 000 | 01909 a2200601 4500 | ||
|---|---|---|---|
| 005 | 20250517124606.0 | ||
| 264 | 0 | _c20170726 | |
| 008 | 201707s 0 0 eng d | ||
| 022 | _a1097-0223 | ||
| 024 | 7 |
_a10.1002/pd.4965 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMiguet, Marguerite | |
| 245 | 0 | 0 |
_aMutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. _h[electronic resource] |
| 260 |
_bPrenatal diagnosis _cDec 2016 |
||
| 300 |
_a1276-1279 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFetal Death |
| 650 | 0 | 4 | _aGestational Age |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIchthyosis _xembryology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 |
_aTrichothiodystrophy Syndromes _xgenetics |
| 650 | 0 | 4 |
_aXeroderma Pigmentosum Group D Protein _xgenetics |
| 700 | 1 | _aThevenon, Julien | |
| 700 | 1 | _aLaugel, Vincent | |
| 700 | 1 | _aLefebvre, Mathilde | |
| 700 | 1 | _aBourchany, Aurélie | |
| 700 | 1 | _aRivière, Jean-Baptiste | |
| 700 | 1 | _aDuffourd, Yannis | |
| 700 | 1 | _aSchaefer, Elise | |
| 700 | 1 | _aAntal, Maria Cristina | |
| 700 | 1 | _aAbida, Rosalie | |
| 700 | 1 | _aWeingertner, Anne-Sophie | |
| 700 | 1 | _aKremer, Valérie | |
| 700 | 1 | _aVabres, Pierre | |
| 700 | 1 | _aMorice-Picard, Fanny | |
| 700 | 1 | _aGonzales, Marie | |
| 700 | 1 | _aLipsker, Dan | |
| 700 | 1 | _aFraitag, Sylvie | |
| 700 | 1 | _aMandel, Jean-Louis | |
| 700 | 1 | _aChelly, Jamel | |
| 700 | 1 | _aDollfus, Hélène | |
| 700 | 1 | _aFaivre, Laurence | |
| 700 | 1 | _aThauvin-Robinet, Christel | |
| 700 | 1 | _aCalmels, Nadège | |
| 700 | 1 | _aEl Chehadeh, Salima | |
| 773 | 0 |
_tPrenatal diagnosis _gvol. 36 _gno. 13 _gp. 1276-1279 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/pd.4965 _zAvailable from publisher's website |
| 999 |
_c26617681 _d26617681 |
||