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Article

Novel pathogenic TGFBR1 variant identified in an adult with acquired retinal arterial macroaneurysm in loeys-dietz syndrome.

European journal of ophthalmology - 1 Nov 2023

Lu Yao, Ma Zhizhong

Abstract excerpt

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 very different than Marfan syndrome. METHODS: Review of one case of LDS with novel retinal findings. RESULTS: A 30-year-old female with LDS was found to have retinal arterial...

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Source

Identifiers

PMID: 37098118
DOI: 10.1177/11206721231170913

Genes

TGFBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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