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...
The article presents information on the Williams-Beuren syndrome. Such syndrome results from the elimination of the Williams-Beuren syndrome chromosome region that contains approximately 28 genes. There are several medical conditions that may be associated with the syndrome including heart murmur, mental ...
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Williams-Beuren syndrome is a complex developmental disorder characterised by congenital heart and vascular disease, mental retardation, a characteristic learning profile, a hypersocial personality and infantile hypercalcaemia. Severe aortic obstruction in Williams-Beuren syndrome--a short case series Williams...
Williams-Beuren syndrome, or Williams syndrome, is caused by a contiguous gene deletion at 7q11.23 that encompasses the elastin geneELN.66,67Similar to 22q11.2 deletion syndrome, deletions are often sporadic but can be inherited. Between 50% and 80% of patients with Williams syndrome have CHD...
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder associated with hypercalcemia of unknown origin. This syndrome results from the deletion of contiguous genes on chromosome 7, including the general transcription factor IIi gene. The general transcription factor IIi gene encodes TFII-I, whic...
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...
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 (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...
威廉姆斯-伯伦综合征是英文疾病名称Williams-Beuren syndrome的中文翻译,英文缩写为WBS, 又叫做婴儿高钙血症是英文疾病名称infantile hypercalcemia,主动脉瓣上狭窄症候群supravalvar aortic stenosis syndrome,小精灵面容综合征elfin facies syndrome、伯伦综合征、威廉姆斯综合征Williams syndrome等。具有这种基因序列的人在存在...