| 000 | 01665 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250517022030.0 | ||
| 264 | 0 | _c20160301 | |
| 008 | 201603s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22786 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTsai, Ellen A | |
| 245 | 0 | 0 |
_aHeterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. _h[electronic resource] |
| 260 |
_bHuman mutation _cJun 2015 |
||
| 300 |
_a631-7 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 |
_aBiliary Atresia _xdiagnosis |
| 650 | 0 | 4 | _aDNA Copy Number Variations |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aHepatocyte Nuclear Factor 3-beta _xgenetics |
| 650 | 0 | 4 |
_aHeterotaxy Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypopituitarism _xdiagnosis |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aGrochowski, Christopher M | |
| 700 | 1 | _aFalsey, Alexandra M | |
| 700 | 1 | _aRajagopalan, Ramakrishnan | |
| 700 | 1 | _aWendel, Danielle | |
| 700 | 1 | _aDevoto, Marcella | |
| 700 | 1 | _aKrantz, Ian D | |
| 700 | 1 | _aLoomes, Kathleen M | |
| 700 | 1 | _aSpinner, Nancy B | |
| 773 | 0 |
_tHuman mutation _gvol. 36 _gno. 6 _gp. 631-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22786 _zAvailable from publisher's website |
| 999 |
_c24702948 _d24702948 |
||