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Article

Ectopia lentis in Loeys-Dietz syndrome type 4.

American journal of medical genetics. Part A - 1 Aug 2020

Braverman Alan C, Blinder Kevin J, Khanna Sangeeta, Willing Marcia

Abstract excerpt

Loeys-Dietz syndrome is a heritable disorder of the connective tissue leading to multisystem involvement including craniofacial features, skeletal abnormalities, cutaneous findings and early-onset and aggressive disease of the aorta and its branches. There are multiple types of Loeys-Dietz syndrome related to pathogenic variants in TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3. Individuals with Loeys-Dietz syndrome may...

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Source

Identifiers

PMID: 32462795
DOI: 10.1002/ajmg.a.61633

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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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