Response to Pyeritz et al

Affiliations

¹ Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
² Center for Medical Genetics, University of Antwerp, Antwerp, Belgium.
³ 1] Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA [2] Howard Hughes Institute, Chevy Chase, Maryland, USA.

Free article

Comment

Gretchen MacCarrick et al. Genet Med. 2014 Aug.

Free article

. 2014 Aug;16(8):642-4.

doi: 10.1038/gim.2014.59.

¹ Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
² Center for Medical Genetics, University of Antwerp, Antwerp, Belgium.
³ 1] Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA [2] Howard Hughes Institute, Chevy Chase, Maryland, USA.

No abstract available

Comment on

Loeys-Dietz syndrome: a primer for diagnosis and management.
MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC 3rd. MacCarrick G, et al. Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Epub 2014 Feb 27. Genet Med. 2014. PMID: 24577266 Free PMC article. Review.
Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling.
Pyeritz R, Jondeau G, Moran R, De Backer J, Arbustini E, De Paepe A, Milewicz D. Pyeritz R, et al. Genet Med. 2014 Aug;16(8):641-2. doi: 10.1038/gim.2014.63. Genet Med. 2014. PMID: 25093568 No abstract available.