ArticleOrphanet journal of rare diseases2020
Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes.iScience · 2025Article
- Identification of TGFBR1 Gene Variants in Two Chinese Pedigrees with Loeys-Dietz Syndrome.Brazilian journal of cardiovascular surgery · 2025Article
- A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report.Heliyon · 2025Article
- Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity.Frontiers in cell and developmental biology · 2025Review
- Unraveling the propensity of various genetic disorders and syndromes in the Koraga, an aboriginal tribe from southern India.Journal of biosciences · 2024Article
- Loeys-Dietz syndrome associated with a heterozygous mutation inExperimental and therapeutic medicine · 2021Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
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Abstract
backgroundLoeys-Dietz syndrome (LDS) is a rare connective tissue disorder for which 6 genes in the TGF-β pathway have been identified as causative. With the widespread use of genetic testing, the range of known clinical and genetic profiles has broadened, but these features have not been fully elucidated thus far. METHODS AND
resultsUsing gene panel sequencing or whole exome sequencing, we identified 54 unique rare variants in LDS genes in 57 patients with thoracic aneurysms/dissections, including 27 pathogenic mutations (P + LP) and 27 variants of unknown significance (VUS
conclusionsTo date, this was the largest cohort of LDS patients ever reported in China, and the present study expanded the known mutation and phenotypic spectra of LDS, which might help refine our knowledge of LDS.
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