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A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm |
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| Authors: | Ruth Leutermann Sara Sheikhzadeh Lars Brockst?dt Meike Rybczynski Vanessa van Rahden Kerstin Kutsche Yskert von Kodolitsch Georg Rosenberger |
| Affiliation: | 1.Department of Human Genetics, Center for Obstetrics and Paediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany;2.Department of Cardiology and Cardiovascular Surgery, University Heart Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany |
| Abstract: | |
| Keywords: | Marfan syndrome, Loeys– Dietz syndrome, thoracic aortic aneurysms and dissections, TGF-β , TGFB2, TGFB2 mutation |