Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2
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DOI: 10.1093/icvts/ivac159
Abstract: Abstract Our goal was to present 2 infants with confirmed Loeys-Dietz syndrome. The missense mutations in exon 7 of the TGFBR2 gene are only 5 codons apart (c.1597T>C and c.1582C>G). Phenotypically, the aneurysms of the… read more here.
Keywords: aortic phenotypes; phenotypes similar; different ascending; ascending aortic ... See more keywords