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Article

Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes.

Circulation journal : official journal of the Japanese Circulation Society - 1 Aug 2007

Akutsu Koichi, Morisaki Hiroko, Takeshita Satoshi, Sakamoto Shingo, Tamori Yuiichi, Yoshimuta Tsuyoshi, Yokoyama Naoyuki, Nonogi Hiroshi, Ogino Hitoshi, Morisaki Takayuki

Abstract excerpt

BACKGROUND: Mutations in the genes for transforming growth factor-beta receptor (TGFBR) have been identified in patients with Marfan syndrome (MFS) and Marfan-like connective tissue disorders. There are several syndromes associated with mutations in TGFBR genes, including Loeys-Dietz syndrome (LDS), MFS2, Furlong syndrome, and Shprintzen-Goldberg syndrome. However, with the exception of the first report by Loeys...

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Source

Identifiers

PMID: 17652900
DOI: 10.1253/circj.71.1305

Genes

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.

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