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Article

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome.

Molecular and cellular probes - 1 Oct 2015

Kuechler Alma, Altmüller Janine, Nürnberg Peter, Kotthoff Stefan, Kubisch Christian, Borck Guntram

Abstract excerpt

Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are clinically related autosomal dominant systemic connective tissue disorders. Although mutations in several genes of the TGF-beta signalling and related pathways have been identified in the past (e.g. FBN1, TGFBR1, TGFBR2, SMAD3, TGFB2), there are still many individuals with "marfanoid" phenotypes in whom no causative mutations are identified. We performed...

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Source

Identifiers

PMID: 26184463
DOI: 10.1016/j.mcp.2015.07.003

Genes

TGFB3
FBN1
SMAD3
TGFB2
TGFBR1
TGFBR2

Variants

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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