Response to Pyeritz et al - PubMed

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• PMID: 25093569
• DOI: 10.1038/gim.2014.59

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Response to Pyeritz et al

Gretchen MacCarrick et al. Genet Med. 2014 Aug.

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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.

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