P225: Comprehensive insight into the clinical phenotypic spectrum of Loeys-Dietz syndrome (LDS): Analysis of the largest Chinese LDS cohort

Genetics in Medicine Open 2026 Open access

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Authors: Hang Yang, Meng Su, Qianlong Chen, Ya Zhang, Wei Wang, Yinhui Zhang, Yujing Zhang, Zhou Zhou, Mingyao Luo
DOI: 10.1016/j.gimo.2026.103719
Cited by: 0

Abstract

Loeys-Dietz syndrome (LDS) represents a rare autosomal dominant connective tissue disorder resulting from pathogenic variants in genes encoding components of the transforming growth factor-beta (TGF-β) signaling pathway. This condition is primarily characterized by thoracic aortic aneurysm/dissection (TAAD) and systemic arterial abnormalities. Given its rarity and relatively recent identification, the comprehensive understanding of LDS pathogenesis, clinical manifestations, and long-term outcomes remains incomplete.

Fields of Study & Subjects

Connective tissue disorders research Genomics and Rare Diseases Dermatological and Skeletal Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103719–103719
Publication date
1 January 2026
Language
EN