A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the gene
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 (hyperte...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2011-06-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-54-272.pdf |