P6497Loeys-Dietz syndrome-5: phenotypic spectrum of TGFB3 mutations in an international cohort and first report of a homozygous patient
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DOI: 10.1093/eurheartj/ehz746.1087
Abstract: Mutations in TGFB3 cause Loeys-Dietz syndrome-5 (LDS5), an autosomal dominantly inherited connective tissue disorder. LDS5 is characterized by aortic aneurysms and dissections associated with systemic features mainly involving the ocular and skeletal systems. Precise delineation… read more here.
Keywords: tgfb3 mutations; lds5; international cohort; dietz syndrome ... See more keywords