Williams-Beuren syndrome
Definition:
References:
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[1]. A Doll, et al. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. Cytogenet Cell Genet. 2001;95(1-2):20-7. [Content Brief]
[2]. Barbara R Pober, et al. Williams-Beuren syndrome. N Engl J Med. 2010 Jan 21;362(3):239-52. [Content Brief]
[3]. Geert Vandeweyer, et al. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. Am J Hum Genet. 2012 Jun 8;90(6):1071-8. [Content Brief]
[4]. Giuseppe Merla, et al. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Hum Genet. 2002 May;110(5):429-38. [Content Brief]
[5]. J L Doyle, et al. Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome. Cytogenet Cell Genet. 2000;90(3-4):285-90. [Content Brief]
[6]. Lucia Micale, et al. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. Eur J Hum Genet. 2008 Sep;16(9):1038-49. [Content Brief]
[7]. Maria Delio, et al. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome. Am J Med Genet A. 2013 Mar;161A(3):527-33. [Content Brief]
[8]. Nataliya Zhukova, et al. Williams-Beuren Syndrome and Burkitt Leukemia. J Pediatr Hematol Oncol. 2013 Jan;35(1):e30-2. [Content Brief]
[9]. Nozomu Matsumoto, et al. Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndrome. Commun Integr Biol. 2011 Mar;4(2):208-10. [Content Brief]
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