| 000 | 01580 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250516103102.0 | ||
| 264 | 0 | _c20130218 | |
| 008 | 201302s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2012.06.015 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFreitas, Érika L | |
| 245 | 0 | 0 |
_aA familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cNov 2012 |
||
| 300 |
_a660-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 2 _xgenetics |
| 650 | 0 | 4 | _aCraniofacial Abnormalities |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHaplotypes |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypertelorism _xdiagnosis |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 |
_aMuscular Atrophy _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aGribble, Susan M | |
| 700 | 1 | _aSimioni, Milena | |
| 700 | 1 | _aVieira, Társis P | |
| 700 | 1 | _aPrigmore, Elena | |
| 700 | 1 | _aKrepischi, Ana C | |
| 700 | 1 | _aRosenberg, Carla | |
| 700 | 1 | _aPearson, Peter L | |
| 700 | 1 | _aMelo, Débora G | |
| 700 | 1 | _aGil-da-Silva-Lopes, Vera Lúcia | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 55 _gno. 11 _gp. 660-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2012.06.015 _zAvailable from publisher's website |
| 999 |
_c21964716 _d21964716 |
||