| 000 | 01509 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250517150409.0 | ||
| 264 | 0 | _c20180601 | |
| 008 | 201806s 0 0 eng d | ||
| 022 | _a2472-1727 | ||
| 024 | 7 |
_a10.1002/bdra.23465 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSadowski, Samantha | |
| 245 | 0 | 0 |
_aBoth a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome. _h[electronic resource] |
| 260 |
_bBirth defects research _cMar 2017 |
||
| 300 |
_a251-253 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnosis |
| 650 | 0 | 4 |
_aAnophthalmos _xdiagnosis |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aGene Expression |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInheritance Patterns |
| 650 | 0 | 4 |
_aLung _xabnormalities |
| 650 | 0 | 4 |
_aLung Diseases _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 |
_aMicrophthalmos _xdiagnosis |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 |
_aRespiratory Insufficiency _xdiagnosis |
| 700 | 1 | _aChassaing, Nicolas | |
| 700 | 1 | _aGaj, Zuzanna | |
| 700 | 1 | _aCzichos, Ewa | |
| 700 | 1 | _aWilczynski, Jan | |
| 700 | 1 | _aNowakowska, Dorota | |
| 773 | 0 |
_tBirth defects research _gvol. 109 _gno. 4 _gp. 251-253 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/bdra.23465 _zAvailable from publisher's website |
| 999 |
_c27070466 _d27070466 |
||