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Article

The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variants.

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

Baskin Stephanie M, Morris Shaine A, Vara Autumn, Hecht Jacqueline T, Farach Laura S

Abstract excerpt

Loeys-Dietz syndrome (LDS), a connective tissue disorder characterized by its vascular, skeletal, craniofacial, and cutaneous manifestations is caused by mutations in one of six genes (TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2, and TGFB3). Until recently, all reported cases of LDS have been attributed to heterozygous pathogenic variants in these genes. Here, we report the first case of Loeys-Dietz syndrome due to SMAD3...

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Identifiers

PMID: 32935439
DOI: 10.1002/ajmg.a.61844

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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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