| 000 | 01321 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250517064033.0 | ||
| 264 | 0 | _c20161219 | |
| 008 | 201612s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22933 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDi Donato, Nataliya | |
| 245 | 0 | 0 |
_aIdentification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum". _h[electronic resource] |
| 260 |
_bHuman mutation _cMar 2016 |
||
| 300 |
_a242-5 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aClass I Phosphatidylinositol 3-Kinases |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMegalencephaly _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aPhosphatidylinositol 3-Kinases _xgenetics |
| 700 | 1 | _aRump, Andreas | |
| 700 | 1 | _aMirzaa, Ghayda M | |
| 700 | 1 | _aAlcantara, Diana | |
| 700 | 1 | _aOliver, Antony | |
| 700 | 1 | _aSchrock, Evelin | |
| 700 | 1 | _aDobyns, William B | |
| 700 | 1 | _aO'Driscoll, Mark | |
| 773 | 0 |
_tHuman mutation _gvol. 37 _gno. 3 _gp. 242-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22933 _zAvailable from publisher's website |
| 999 |
_c25472194 _d25472194 |
||