| 000 | 01336 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250518050540.0 | ||
| 264 | 0 | _c20200717 | |
| 008 | 202007s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/s41431-019-0463-9 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFusco, Francesca | |
| 245 | 0 | 0 |
_aClinical utility gene card: for incontinentia pigmenti. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c12 2019 |
||
| 300 |
_a1894-1900 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aDisorders of Sex Development _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenes, X-Linked _xgenetics |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aI-kappa B Kinase _xgenetics |
| 650 | 0 | 4 |
_aIncontinentia Pigmenti _xdiagnosis |
| 650 | 0 | 4 |
_aLoss of Function Mutation _xgenetics |
| 700 | 1 | _aPescatore, Alessandra | |
| 700 | 1 | _aSteffann, Julie | |
| 700 | 1 | _aBonnefont, Jean-Paul | |
| 700 | 1 | _aDe Oliveira, Judite | |
| 700 | 1 | _aLioi, Maria Brigida | |
| 700 | 1 | _aUrsini, Matilde Valeria | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 27 _gno. 12 _gp. 1894-1900 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/s41431-019-0463-9 _zAvailable from publisher's website |
| 999 |
_c29885230 _d29885230 |
||