| 000 | 01489 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250516041059.0 | ||
| 264 | 0 | _c20111031 | |
| 008 | 201110s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2011.04.007 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKraoua, Lilia | |
| 245 | 0 | 0 |
_aHexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _c |
||
| 300 |
_ae446-50 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAngelman Syndrome _xgenetics |
| 650 | 0 | 4 | _aChromosome Banding |
| 650 | 0 | 4 |
_aChromosome Disorders _xgenetics |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 15 _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPigmentation Disorders _xgenetics |
| 650 | 0 | 4 |
_aPrader-Willi Syndrome _xgenetics |
| 700 | 1 | _aChaabouni, Myriam | |
| 700 | 1 | _aEwers, Elisabeth | |
| 700 | 1 | _aChelly, Imen | |
| 700 | 1 | _aOuertani, Ines | |
| 700 | 1 | _aBen Jemaa, Lamia | |
| 700 | 1 | _aMaazoul, Faouzi | |
| 700 | 1 | _aLiehr, Thomas | |
| 700 | 1 | _aChaabouni, Habiba | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 54 _gno. 4 _gp. e446-50 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2011.04.007 _zAvailable from publisher's website |
| 999 |
_c20881290 _d20881290 |
||