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Article

Identification of TGFBR1 Gene Variants in Two Chinese Pedigrees with Loeys-Dietz Syndrome.

Brazilian journal of cardiovascular surgery - 12 Feb 2025

Qiu Jiehua, Chen Wei, Min Xixi, Shen Yang, Zhu Xianhua, Qiu Jiacong, Zeng Xiande, Zeng Xiong, Ji Yanchun, Zhou Weimin

Abstract excerpt

OBJECTIVE: To investigate a precise treatment and related gene variants in some Loeys-Dietz syndrome (LDS) patients with vascular disease. METHODS: Two probands (JX001-II1 and JX002-II1) diagnosed with LDS and their families were recruited. Routine blood test, antiphospholipid antibodies, immune globulins, nuclear antibodies (ANAs) and biochemical tests, and computed tomography angiography (CTA) were performed...

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Identifiers

PMID: 39937695
DOI: 10.21470/1678-9741-2023-0495
PMCID: PMC11813233

Genes

TGFBR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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