Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings
Author:
Publisher
Springer Science and Business Media LLC
Subject
Radiology, Nuclear Medicine and imaging,Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00247-011-2195-z.pdf
Reference59 articles.
1. Loeys BL, Chen J, Neptune ER et al (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37:275–281
2. Gutman G, Baris HN, Hirsch R et al (2009) Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation. Fetal Diagn Ther 26:35–37
3. Sousa SB, Lambot-Juhan K, Rio M et al (2011) Expanding the skeletal phenotype of Loeys-Dietz syndrome. Am J Med Genet A 155:1178–1183
4. Mizuguchi T, Matsumoto N (2007) Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet 52:1–12
5. Arslan-Kirchner M, Epplen JT, Faivre L et al (2011) Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. Eur J Hum Genet. doi: 10.1038/ejhg.2011.68
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