Kiliç, Esra <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0041-4301 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Aneurysm--genetics<br/>Aorta--pathology<br/>Carotid Artery, Internal<br/>Consanguinity<br/>Dilatation, Pathologic<br/>Female<br/>Humans<br/>Loeys-Dietz Syndrome--genetics<br/>Mutation<br/>Protein Serine-Threonine Kinases--genetics<br/>Receptor, Transforming Growth Factor-beta Type II<br/>Receptors, Transforming Growth Factor beta--genetics<br/>Torsion Abnormality--genetics<br/>Turkey<br/>Vascular Diseases--genetics