Loeys-Dietz syndrome

Loeys-Dietz syndrome-autosomal dominant aortic aneurysm syndrome with widespread systemic involvement with arterial tortuosity, hypertelorism, bifid or cleft palate caused by heterozygous mutations in genes encoding for growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2), respectively.

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