| 000 | 01906 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250517143958.0 | ||
| 264 | 0 | _c20170508 | |
| 008 | 201705s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.38144 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLouie, Raymond J | |
| 245 | 0 | 0 |
_aNovel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMay 2017 |
||
| 300 |
_a1219-1225 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCell Differentiation _xgenetics |
| 650 | 0 | 4 |
_aDiabetes Mellitus, Type 1 _xcongenital |
| 650 | 0 | 4 |
_aDiarrhea _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFetus |
| 650 | 0 | 4 |
_aForkhead Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aImmune System Diseases _xcongenital |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNF-kappa B _xgenetics |
| 650 | 0 | 4 |
_aNFATC Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 |
_aT-Lymphocytes, Regulatory _ximmunology |
| 650 | 0 | 4 | _aUltrasonography, Prenatal |
| 700 | 1 | _aTan, Queenie K-G | |
| 700 | 1 | _aGilner, Jennifer B | |
| 700 | 1 | _aRogers, R Curtis | |
| 700 | 1 | _aYounge, Noelle | |
| 700 | 1 | _aWechsler, Stephanie B | |
| 700 | 1 | _aMcDonald, Marie T | |
| 700 | 1 | _aGordon, Barbara | |
| 700 | 1 | _aSaski, Christopher A | |
| 700 | 1 | _aJones, Julie R | |
| 700 | 1 | _aChapman, Shelley J | |
| 700 | 1 | _aStevenson, Roger E | |
| 700 | 1 | _aSleasman, John W | |
| 700 | 1 | _aFriez, Michael J | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 173 _gno. 5 _gp. 1219-1225 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.38144 _zAvailable from publisher's website |
| 999 |
_c26991374 _d26991374 |
||