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Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.

Authors
  • Zhang, Lin
  • Gao, Ling-Gen
  • Zhang, Ming
  • Zhou, Xian-Liang
Type
Published Article
Journal
Molecular vision
Publication Date
Jan 01, 2012
Volume
18
Pages
55–63
Identifiers
PMID: 22259224
Source
Medline
License
Unknown

Abstract

The findings extend the mutation spectrum of Marfan syndrome, and that mutations at the F-helix in the kinase domain of TGFBR2 may be associated with the development of severe cardiovascular and skeletal lesions and minor ocular lesions. These findings have implications for genetic testing, diagnosis, and treatment in individuals with transforming growth factor beta (TGF-β) signaling-related disorders.

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