Williams-Beuren syndrome

Definition

Williams-Beuren syndrome (WBS) is a rare autosomal dominant multisystem disorder associated with the hemizygous deletion of a number of genes on chromosome 7q11.23. The range of phenotypes may include congenital vascular and heart disease, characteristic facial features, premature aging, generally mild mental retardation, short stature, myopathy, hypercalcemia, and a unique cognitive profile. To date at least 28 genes have been identified within the deleted region.

References:

[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]

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

お名前
メール *

	Sorry, but the email address you supplied was invalid.