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Article

The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.

Medicine - 1 May 2018

Seo Go Hun, Kim Yoon-Myung, Kang Eungu, Kim Gu-Hwan, Seo Eul-Ju, Lee Beom Hee, Choi Jin-Ho, Yoo Han-Wook

Abstract excerpt

Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are the connective tissue disorders characterized by aortic root aneurysm and/or dissection and various additional features. We evaluated the correlation of these mutations with the phenotypes and determined the clinical applicability of the revised Ghent criteria.The mutation spectrum and phenotypic heterogeneities of the 83 and 5 Korean patients with...

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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: 29768367
DOI: 10.1097/MD.0000000000010767
PMCID: PMC5976283

Genes

FBN1
TGFBR1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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