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Article

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

Human mutation - 1 Aug 2006

Singh Krishna Kumar, Rommel Kathrin, Mishra Anjali, Karck Matthias, Haverich Axel, Schmidtke Jörg, Arslan-Kirchner Mine

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder characterized by manifestations in the cardiovascular, skeletal, ocular, and other organ systems. MFS type1 (MFS1) is caused by mutations in the gene encoding fibrillin (FBN1). Recently, the transforming growth factor-beta receptor-2 gene, TGFBR2, has been shown to be associated with a second type of this disorder with typically mild or...

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Source

Identifiers

PMID: 16799921
DOI: 10.1002/humu.20354

Genes

TGFBR2
TGFBR1
FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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