| 000 | 01565 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250517085447.0 | ||
| 264 | 0 | _c20170125 | |
| 008 | 201701s 0 0 eng d | ||
| 022 | _a1755-3768 | ||
| 024 | 7 |
_a10.1111/aos.13030 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSeifi, Morteza | |
| 245 | 0 | 0 |
_aNovel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. _h[electronic resource] |
| 260 |
_bActa ophthalmologica _cNov 2016 |
||
| 300 |
_ae571-e579 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAnterior Eye Segment _xabnormalities |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDNA Copy Number Variations |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 |
_aEye Abnormalities _xgenetics |
| 650 | 0 | 4 | _aEye Diseases, Hereditary |
| 650 | 0 | 4 |
_aHomeodomain Proteins _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOpen Reading Frames _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aReal-Time Polymerase Chain Reaction |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 | _aHomeobox Protein PITX2 |
| 700 | 1 | _aFootz, Tim | |
| 700 | 1 | _aTaylor, Sherry A M | |
| 700 | 1 | _aElhady, Ghada M | |
| 700 | 1 | _aAbdalla, Ebtesam M | |
| 700 | 1 | _aWalter, Michael A | |
| 773 | 0 |
_tActa ophthalmologica _gvol. 94 _gno. 7 _gp. e571-e579 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/aos.13030 _zAvailable from publisher's website |
| 999 |
_c25858751 _d25858751 |
||