TY  - GEN
AU  - Kiliç,Esra
AU  - Alanay,Yasemin
AU  - Utine,Eda
AU  - Ozgen-Mocan,Burçe
AU  - Robinson,Peter N
AU  - Boduroğlu,Koray
TI  - Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene
SN  - 0041-4301
PY  - 2012///0814
KW  - Adolescent
KW  - Aneurysm
KW  - genetics
KW  - Aorta
KW  - pathology
KW  - Carotid Artery, Internal
KW  - Consanguinity
KW  - Dilatation, Pathologic
KW  - Female
KW  - Humans
KW  - Loeys-Dietz Syndrome
KW  - Mutation
KW  - Protein Serine-Threonine Kinases
KW  - Receptor, Transforming Growth Factor-beta Type II
KW  - Receptors, Transforming Growth Factor beta
KW  - Torsion Abnormality
KW  - Turkey
KW  - Vascular Diseases
N1  - Publication Type: Case Reports; Journal Article
ER  -