| 000 | 01541 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250513085344.0 | ||
| 264 | 0 | _c19960327 | |
| 008 | 199603s 0 0 eng d | ||
| 022 | _a0148-7299 | ||
| 024 | 7 |
_a10.1002/ajmg.1320590217 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSchimmenti, L A | |
| 245 | 0 | 0 |
_aAutosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics _cNov 1995 |
||
| 300 |
_a204-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aColoboma _xgenetics |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aKidney _xabnormalities |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aOptic Nerve _xabnormalities |
| 650 | 0 | 4 | _aPAX2 Transcription Factor |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 | _aUltrasonography |
| 650 | 0 | 4 |
_aVesico-Ureteral Reflux _xgenetics |
| 700 | 1 | _aPierpont, M E | |
| 700 | 1 | _aCarpenter, B L | |
| 700 | 1 | _aKashtan, C E | |
| 700 | 1 | _aJohnson, M R | |
| 700 | 1 | _aDobyns, W B | |
| 773 | 0 |
_tAmerican journal of medical genetics _gvol. 59 _gno. 2 _gp. 204-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.1320590217 _zAvailable from publisher's website |
| 999 |
_c8587637 _d8587637 |
||