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Identification of a novel TGFBR1 mutation in a Loeys–Dietz syndrome type II patient with vascular Ehlers–Danlos syndrome phenotype.

Authors :
Drera, B.
Tadini, G.
Barlati, S.
Colombi, M.
Source :
Clinical Genetics. Mar2008, Vol. 73 Issue 3, p290-293. 4p. 1 Color Photograph, 1 Graph.
Publication Year :
2008

Abstract

A letter to the editor is presented which shows the identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome (LDS) type II patient with vascular Ehlers-Danlos syndrome phenotype.

Details

Language :
English
ISSN :
00099163
Volume :
73
Issue :
3
Database :
Academic Search Index
Journal :
Clinical Genetics
Publication Type :
Academic Journal
Accession number :
28793911
Full Text :
https://doi.org/10.1111/j.1399-0004.2007.00942.x