000 | 01343 a2200421 4500 | ||
---|---|---|---|
005 | 20250517105429.0 | ||
264 | 0 | _c20170630 | |
008 | 201706s 0 0 eng d | ||
022 | _a1399-0004 | ||
024 | 7 |
_a10.1111/cge.12838 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aMazzella, J-M | |
245 | 0 | 0 |
_aPhenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4. _h[electronic resource] |
260 |
_bClinical genetics _c03 2017 |
||
300 |
_a458-462 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 |
_aAortic Aneurysm, Thoracic _xgenetics |
650 | 0 | 4 |
_aArteries _xpathology |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aFrameshift Mutation |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntracranial Aneurysm _xgenetics |
650 | 0 | 4 |
_aLoeys-Dietz Syndrome _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 |
_aSignal Transduction _xgenetics |
650 | 0 | 4 |
_aTransforming Growth Factor beta2 _xgenetics |
700 | 1 | _aFrank, M | |
700 | 1 | _aCollignon, P | |
700 | 1 | _aLangeois, M | |
700 | 1 | _aLegrand, A | |
700 | 1 | _aJeunemaitre, X | |
700 | 1 | _aAlbuisson, J | |
773 | 0 |
_tClinical genetics _gvol. 91 _gno. 3 _gp. 458-462 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.12838 _zAvailable from publisher's website |
999 |
_c26248674 _d26248674 |