Novel pathogenic TGFBR1 variant identified in an adult with acquired retinal arterial macroaneurysm in loeys-dietz syndrome.
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DOI: 10.1177/11206721231170913
Abstract: BACKGROUND Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder of the connective tissue that has phenotypic overlap with Marfan syndrome，but the aortic root dissections can be more aggressive and ocular findings in LDS may be… read more here.
Keywords: novel pathogenic; dietz syndrome; retinal arterial; pathogenic tgfbr1 ... See more keywords