Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling
Genet Med
.
2014 Aug;16(8):641-2.
doi: 10.1038/gim.2014.63.
Authors
Reed Pyeritz
1
,
Guillaume Jondeau
2
,
Rocio Moran
3
,
Julie De Backer
4
,
Eloisa Arbustini
5
,
Anne De Paepe
4
,
Dianna Milewicz
6
Affiliations
1
Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
2
AP-HP Hôpital Bichat, INSERM, Paris, France.
3
Cleveland Clinic, Cleveland, Ohio, USA.
4
University of Gent, Gent, Belgium.
5
IRCCS Fondazione Policlinico San Matteo, Pavia, Italy.
6
University of Texas Health Science Center at Houston, Houston, Texas, USA.
PMID:
25093568
DOI:
10.1038/gim.2014.63
No abstract available
Publication types
Letter
Comment
MeSH terms
Humans
Loeys-Dietz Syndrome / diagnosis*
Loeys-Dietz Syndrome / therapy*