Antonell A, Vilardell M, Jurado LAP: Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits. Hum Genet 2010, 128: 27–37.Antonell, A., M. Vilardell, and L.A. Perez Jurado, Transcriptome ...
Williams-Beuren syndrome (WBS; also called Williams syndrome) is a multisystem developmental disorder that is almost always associated with an approx 1.5-Mb deletion of chromosome 7q11.23 (OMIM no. 194050). The deletion was identified in 1993 based on the observation of phenotypic overlap with sup...
Williams综合征(WS)也叫Williams-Beuren综合征,是一种多系统疾病,最常累及心血管系统、中枢神经系统、消化系统和内分泌系统,但任何器官系统均可受累。这一疾病因7号染色体长臂近着丝粒端片段7q11.23微缺失引起,以认知缺陷、轻度精神发育不良和动脉狭窄为特点,发病率约为1/10,000,男性和女性...
Williams-Beuren Syndrome: An Update and Review for the Primary Physician. Focuses on Williams-Beuren syndrome (WBS), an autosomal dominant disorder resulting from a sub-microscopic deletion of contiguous genes on the long arm of ... Lashkari,Ashkan,Smith,... - 《Clinical Pediatrics》 被引量: ...
'Williams Syndrome (Williams-Beuren syndrome, WMS)' published in 'Encyclopedia of Genetics, Genomics, Proteomics and Informatics'
必应词典为您提供Williams-Beuren-Syndrome的释义,网络释义: 威廉氏症候群;威廉姆斯博伊伦综合征;威廉氏猋鞅群;
Williams–Beuren Syndrome Williams–Beuren syndrome (OMIM #194050) is an autosomal dominant disorder characterized by specific cardiovascular defects, infantile hypercalcemia, skeletal and renal anomalies, cognitive deficits, “social personality,” and elfin facies (Fig. 8-4).26As with other deletion ...
Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome ...
Williams-Beuren syndrome (WBS) is a genetic disease caused by a microdeletion in the 7q11.23 region. It is characterized by congenital heart disease, mainly supravalvular aortic stenosis, mental retardation, mild short stature, facial dysmorphisms, and variable abnormalities in different systems. Ob...
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