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...
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| Päätekijät: | , |
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| Aineistotyyppi: | Kirja |
| Julkaistu: |
Korean Pediatric Society,
2011-06-01T00:00:00Z.
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Internet
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A1234.567 |
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| Nide 1 | Saatavissa |