| 000 | 01705 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250517212600.0 | ||
| 264 | 0 | _c20190520 | |
| 008 | 201905s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.38668 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBouman, Arjan | |
| 245 | 0 | 0 |
_aHomozygous DMRT2 variant associates with severe rib malformations in a newborn. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _c05 2018 |
||
| 300 |
_a1216-1221 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnosis |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aHernia, Diaphragmatic _xdiagnosis |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 |
_aRibs _xabnormalities |
| 650 | 0 | 4 |
_aSpine _xabnormalities |
| 650 | 0 | 4 | _aTomography, Spiral Computed |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aWaisfisz, Quinten | |
| 700 | 1 | _aAdmiraal, Jop | |
| 700 | 1 | _avan de Loo, Moniek | |
| 700 | 1 | _avan Rijn, Rick R | |
| 700 | 1 | _aMicha, Dimitra | |
| 700 | 1 | _aOostra, Roelof-Jan | |
| 700 | 1 | _aMathijssen, Inge B | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 176 _gno. 5 _gp. 1216-1221 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.38668 _zAvailable from publisher's website |
| 999 |
_c28312590 _d28312590 |
||