| 000 | 01527 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250516044439.0 | ||
| 264 | 0 | _c20120113 | |
| 008 | 201201s 0 0 eng d | ||
| 022 | _a1744-5094 | ||
| 024 | 7 |
_a10.3109/13816810.2011.592176 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAliferis, Konstantinos | |
| 245 | 0 | 0 |
_aA novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype. _h[electronic resource] |
| 260 |
_bOphthalmic genetics _cNov 2011 |
||
| 300 |
_a250-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aBranchio-Oto-Renal Syndrome _xdiagnosis |
| 650 | 0 | 4 |
_aChoroid _xabnormalities |
| 650 | 0 | 4 |
_aColoboma _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrophthalmos _xgenetics |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRetina _xabnormalities |
| 650 | 0 | 4 |
_aTranscription Factor AP-2 _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aStoetzel, Corinne | |
| 700 | 1 | _aPelletier, Valérie | |
| 700 | 1 | _aHellé, Sophie | |
| 700 | 1 | _aAngioï-Duprez, Karine | |
| 700 | 1 | _aVigneron, Jacqueline | |
| 700 | 1 | _aLeheup, Bruno | |
| 700 | 1 | _aMarion, Vincent | |
| 700 | 1 | _aDollfus, Hélène | |
| 773 | 0 |
_tOphthalmic genetics _gvol. 32 _gno. 4 _gp. 250-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.3109/13816810.2011.592176 _zAvailable from publisher's website |
| 999 |
_c20981404 _d20981404 |
||