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A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene

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Author(s)
Jung Sook HaYeo Hyang Kim
Keimyung Author(s)
Ha, Jung SookKim, Yeo Hyang
Department
Dept. of Laboratory Medicine (진단검사의학)
Dept. of Pediatrics (소아청소년학)
Journal Title
Korean Journal of Pediatrics
Issued Date
2011
Volume
54
Issue
6
Keyword
Aortic aneurysmThoraxTGF-beta type I receptorTGFbeta type II receptorMutation
Abstract
A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection throughout the arterial tree. LDS is characterized by aggressive and rapid progression of aortic aneurysm. Therefore, the patients with distinct phenotype, marked aortic dilatation and aneurysm at early age should be suspected to be affected by LDS and rapid TGFBR gene analysis should be done. We report one child diagnosed as LDS due to typical phenotypes and two novel missense mutations of the TGFBR2 gene (c.1526G>T and c.1528A>T).
Keimyung Author(s)(Kor)
하정숙
김여향
Publisher
School of Medicine
Citation
Jung Sook Ha and Yeo Hyang Kim. (2011). A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene. Korean Journal of Pediatrics, 54(6), 272–275. doi: 10.3345/kjp.2011.54.6.272
Type
Article
ISSN
1738-1061
DOI
10.3345/kjp.2011.54.6.272
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/36195
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학)
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
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