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