Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.

Kiliç, Esra

Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. [electronic resource] - The Turkish journal of pediatrics - 198-202 p. digital

Publication Type: Case Reports; Journal Article

0041-4301


Adolescent
Aneurysm--genetics
Aorta--pathology
Carotid Artery, Internal
Consanguinity
Dilatation, Pathologic
Female
Humans
Loeys-Dietz Syndrome--genetics
Mutation
Protein Serine-Threonine Kinases--genetics
Receptor, Transforming Growth Factor-beta Type II
Receptors, Transforming Growth Factor beta--genetics
Torsion Abnormality--genetics
Turkey
Vascular Diseases--genetics