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. 2011 Oct;19(10).
doi: 10.1038/ejhg.2011.68. Epub 2011 Apr 27.

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

Mine Arslan-Kirchner  1 , Jörg T Epplen, Laurence Faivre, Guillaume Jondeau, Jörg Schmidtke, Anne De Paepe, Bart Loeys
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Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

Mine Arslan-Kirchner et al. Eur J Hum Genet. 2011 Oct.
No abstract available

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References

    1. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37:275–281. - PubMed
    1. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355:788–798. - PubMed
    1. Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004;36:855–860. - PMC - PubMed
    1. Pannu H, Fadulu VT, Chang J, et al. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 2005;112:513–520. - PubMed
    1. Tran-Fadulu VT, Pannu H, Kim DH, et al. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet. 2009. - PubMed

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