Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.

Authors :: Arslan-Kirchner, Mine
Epplen, Jörg T.
Faivre, Laurence
Jondeau, Guillaume
Schmidtke, Jörg
De Paepe, Anne
Loeys, Bart
Source :: European Journal of Human Genetics; Oct2011, Vol. 19 Issue 10, p1, 1p, 4 Charts
Publication Year :: 2011
Abstract: The article presents a clinical utility gene card for Loeys-Dietz syndrome (TGFBR 1/2). It provides information on the characteristics of the disease including its name, mutation spectrum, and the estimated frequency of the disease. It also discusses TGFBR 1/2 testing which is the first test to perform in the indications of the disease.

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