Funder
Ministero della Salute
Università degli Studi dell'Aquila
Ministry of Health, Italy | Agenzia Italiana del Farmaco, Ministero della Salute
Fondazione Città della Speranza
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference14 articles.
1. Loeys BL, Dietz HC Loeys-Dietz Syndrome. 2008 Feb 28 [Updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
2. Van Laer L, Dietz H, Loeys B. Loeys-dietz syndrome. Adv Exp Med Biol. 2014;802:95–105.
3. Camerota L, Ritelli M, Wischmeijer A, Majore S, Cinquina V, Fortugno P, et al. Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data. Genes (Basel). 2019;10:764.
4. MacCarrick G, Black JH 3rd, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, et al. Loeys-Dietz syndrome: A primer for diagnosis and management. Genet Med. 2014;16:576–87.
5. Cardoso S, Robertson SP, Daniel PB. TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. J Recept Signal Transduct. 2012;32:150–5.
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