| 000 | 01792 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250516225616.0 | ||
| 264 | 0 | _c20150612 | |
| 008 | 201506s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2014.07.003 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKemeny, Stéphan | |
| 245 | 0 | 0 |
_aClinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cOct 2014 |
||
| 300 |
_a552-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 17 |
| 650 | 0 | 4 |
_aCollagen Type I _xgenetics |
| 650 | 0 | 4 | _aCollagen Type I, alpha 1 Chain |
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 |
_aExtracellular Matrix Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Duplication |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 |
_aMusculoskeletal Abnormalities _xgenetics |
| 650 | 0 | 4 |
_aProtein Phosphatase 1 _xgenetics |
| 650 | 0 | 4 |
_aSarcoglycans _xgenetics |
| 650 | 0 | 4 |
_aScoliosis _xgenetics |
| 700 | 1 | _aPebrel-Richard, Céline | |
| 700 | 1 | _aEymard-Pierre, Eléonore | |
| 700 | 1 | _aGay-Bellile, Mathilde | |
| 700 | 1 | _aGouas, Laetitia | |
| 700 | 1 | _aGoumy, Carole | |
| 700 | 1 | _aTchirkov, Andreï | |
| 700 | 1 | _aFrancannet, Christine | |
| 700 | 1 | _aVago, Philippe | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 57 _gno. 10 _gp. 552-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2014.07.003 _zAvailable from publisher's website |
| 999 |
_c24082832 _d24082832 |
||