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Article

TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome.

Journal of negative results in biomedicine - 2 Feb 2012

Singh Krishna K, Schmidtke Joerg, Keyser Britta, Arslan-Kirchner Mine

Abstract excerpt

Marfan syndrome (MFS) is caused by mutations in the fibrillin-1 (FBN1) gene, and mutations in FBN1 are known to be responsible for over 90% of all MFS cases. Locus heterogeneity has also been reported and confirmed, with mutations in the receptor genes TGFBR1 and TGFBR2 identified in association with MFS-related phenotypes. It is now known that dysregulation of TGF-ß signaling is involved in MFS pathogenesis. To...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22300218
DOI: 10.1186/1477-5751-11-9
PMCID: PMC3299593

Genes

TGFBR3
FBN1
TGFBR1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome.PMID 22300218Read ↗

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Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.Semantic proximity Read ↗

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TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.Semantic proximity Read ↗

Molecular genetics of Marfan syndrome.Semantic proximity Read ↗

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.Semantic proximity Read ↗

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