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Article

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

European journal of human genetics : EJHG - 1 Jan 2006

Disabella Eliana, Grasso Maurizia, Marziliano Nicola, Ansaldi Silvia, Lucchelli Claudia, Porcu Emanuele, Tagliani Marilena, Pilotto Andrea, Diegoli Marta, Lanzarini Luca, Malattia Clara, Pelliccia Antonio, Ficcadenti Anna, Gabrielli Orazio, Arbustini Eloisa

Abstract excerpt

TGF-beta-receptor 2 (TGFBR2) gene defects have been recently associated with Marfan syndrome (MFS) with prominent cardio-skeletal phenotype in patients with negative fibrillin-1 (FBN1) gene screening. Four mutations have been identified to date in five unrelated families. We screened TGFBR2 gene by direct automated sequencing in two adult patients diagnosed with MFS according to Ghent criteria, and in one girl...

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Source

Identifiers

PMID: 16251899
DOI: 10.1038/sj.ejhg.5201502

Genes

TGFBR2
FBN1

Variants

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.

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