| 000 | 01861 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250516032415.0 | ||
| 264 | 0 | _c20110824 | |
| 008 | 201108s 0 0 eng d | ||
| 022 | _a1708-8283 | ||
| 024 | 7 |
_a10.1177/0883073810384996 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLim, Byung Chan | |
| 245 | 0 | 0 |
_aDe novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. _h[electronic resource] |
| 260 |
_bJournal of child neurology _cMay 2011 |
||
| 300 |
_a615-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAtaxia Telangiectasia Mutated Proteins |
| 650 | 0 | 4 |
_aBlepharophimosis _xcomplications |
| 650 | 0 | 4 | _aBlepharoptosis |
| 650 | 0 | 4 |
_aCell Cycle Proteins _xgenetics |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 3 _xgenetics |
| 650 | 0 | 4 |
_aDandy-Walker Syndrome _xcomplications |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xcomplications |
| 650 | 0 | 4 | _aForkhead Box Protein L2 |
| 650 | 0 | 4 |
_aForkhead Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 |
_aProtein Serine-Threonine Kinases _xgenetics |
| 650 | 0 | 4 |
_aSequence Deletion _xgenetics |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aPark, Woong Yang | |
| 700 | 1 | _aSeo, Eul-Ju | |
| 700 | 1 | _aKim, Ki Joong | |
| 700 | 1 | _aHwang, Yong Seung | |
| 700 | 1 | _aChae, Jong Hee | |
| 773 | 0 |
_tJournal of child neurology _gvol. 26 _gno. 5 _gp. 615-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1177/0883073810384996 _zAvailable from publisher's website |
| 999 |
_c20738887 _d20738887 |
||