دورية أكاديمية
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the gene
| العنوان: | A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the gene |
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| المؤلفون: | Jung Sook Ha, Yeo Hyang Kim |
| المصدر: | Korean Journal of Pediatrics, Vol 54, Iss 6, Pp 272-275 (2011) |
| بيانات النشر: | Korean Pediatric Society, 2011. |
| سنة النشر: | 2011 |
| المجموعة: | LCC:Pediatrics |
| مصطلحات موضوعية: | Aortic aneurysm, Thorax, TGF-beta type I receptor, TGF-beta type II receptor, Mutation, Pediatrics, RJ1-570 |
| الوصف: | 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). |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1738-1061 2092-7258 |
| Relation: | http://kjp.or.kr/upload/pdf/kjped-54-272.pdf; https://doaj.org/toc/1738-1061; https://doaj.org/toc/2092-7258 |
| DOI: | 10.3345/kjp.2011.54.6.272 |
| URL الوصول: | https://doaj.org/article/c6681a097784475381e50bc72b557a6d |
| رقم الأكسشن: | edsdoj.6681a097784475381e50bc72b557a6d |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 17381061 20927258 |
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| DOI: | 10.3345/kjp.2011.54.6.272 |