Loeys-Dietz syndrome
Definition:
References:
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[1]. Bruno Drera, et al. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. Orphanet J Rare Dis. 2009 Nov 2;4:24. [Content Brief]
[2]. Dianna M Milewicz, et al. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet. 2008;9:283-302. [Content Brief]
[3]. Elyssa Cannaerts, et al. Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype. J Med Genet. 2019 Apr;56(4):220-227. [Content Brief]
[4]. Hugh Young Rienhoff Jr, et al. A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome. Am J Med Genet A. 2013 Aug;161A(8):2040-6. [Content Brief]
[5]. Ingrid M B H van de Laar, et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet. 2011 Feb;43(2):121-6. [Content Brief]
[6]. Mark E Lindsay, et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet. 2012 Jul 8;44(8):922-7. [Content Brief]
[7]. Vivek B Kalra, et al. Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. Pediatr Radiol. 2011 Dec;41(12):1495-504; quiz 1616. [Content Brief]
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