| 000 | 01380 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250515104310.0 | ||
| 264 | 0 | _c20080313 | |
| 008 | 200803s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.32168 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAntonius, Timothy | |
| 245 | 0 | 0 |
_aDenys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cFeb 2008 |
||
| 300 |
_a496-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aArginine _xgenetics |
| 650 | 0 | 4 |
_aDenys-Drash Syndrome _xcomplications |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Wilms Tumor |
| 650 | 0 | 4 |
_aHernia, Diaphragmatic _xcomplications |
| 650 | 0 | 4 | _aHernias, Diaphragmatic, Congenital |
| 650 | 0 | 4 |
_aHistidine _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPoint Mutation |
| 700 | 1 | _avan Bon, Bregje | |
| 700 | 1 | _aEggink, Alex | |
| 700 | 1 | _avan der Burgt, Ineke | |
| 700 | 1 | _aNoordam, Kees | |
| 700 | 1 | _avan Heijst, Arno | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 146A _gno. 4 _gp. 496-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.32168 _zAvailable from publisher's website |
| 999 |
_c17711088 _d17711088 |
||