Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. [electronic resource]
Producer: 20120814Description: 198-202 p. digitalISSN:- 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
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Publication Type: Case Reports; Journal Article
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