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Article

Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.

European journal of pediatrics - 1 Mar 2014

Ting Teck Wah, Lai Angeline Hwei Meeng, Choo Jonathan Tze Liang, Tan Teng Hong

Abstract excerpt

UNLABELLED: Loeys-Dietz syndrome (LDS) is a heritable connective tissue disease in which the activity of the transforming growth factor (TGF) beta signalling pathway is disrupted. The clinical features of LDS represent a clinical continuum that includes LDS type 1, with cutaneous, vascular, skeletal and craniofacial findings, and LDS type 2, with cutaneous, vascular and skeletal findings. We describe five Asian...

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Source

Identifiers

PMID: 24146167
DOI: 10.1007/s00431-013-2187-0

Genes

TGFBR2
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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