000 01434 a2200421 4500
005 20250516100546.0
264 0 _c20120814
008 201208s 0 0 eng d
022 _a0041-4301
040 _aNLM
_beng
_cNLM
100 1 _aKiliç, Esra
245 0 0 _aArterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.
_h[electronic resource]
260 _bThe Turkish journal of pediatrics
_c
300 _a198-202 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAdolescent
650 0 4 _aAneurysm
_xgenetics
650 0 4 _aAorta
_xpathology
650 0 4 _aCarotid Artery, Internal
650 0 4 _aConsanguinity
650 0 4 _aDilatation, Pathologic
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aLoeys-Dietz Syndrome
_xgenetics
650 0 4 _aMutation
650 0 4 _aProtein Serine-Threonine Kinases
_xgenetics
650 0 4 _aReceptor, Transforming Growth Factor-beta Type II
650 0 4 _aReceptors, Transforming Growth Factor beta
_xgenetics
650 0 4 _aTorsion Abnormality
_xgenetics
650 0 4 _aTurkey
650 0 4 _aVascular Diseases
_xgenetics
700 1 _aAlanay, Yasemin
700 1 _aUtine, Eda
700 1 _aOzgen-Mocan, Burçe
700 1 _aRobinson, Peter N
700 1 _aBoduroğlu, Koray
773 0 _tThe Turkish journal of pediatrics
_gvol. 54
_gno. 2
_gp. 198-202
999 _c21895424
_d21895424