A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the gene

A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the gene

A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hyperte...

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Bibliographic Details
Main Authors: Jung Sook Ha, Yeo Hyang Kim
Format: Article
Language:English
Published: Korean Pediatric Society 2011-06-01
Series:Korean Journal of Pediatrics
Subjects:
Aortic aneurysm
Thorax
TGF-beta type I receptor
TGF-beta type II receptor
Mutation
Online Access:http://kjp.or.kr/upload/pdf/kjped-54-272.pdf

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