| 单词 | Contiguous Gene Syndrome,Williams |
| 释义 | Contiguous Gene Syndrome,Williams《英文msh词典》Contiguous Gene Syndrome,Williams [同义词] Contiguous Gene Syndrome,Williams [主题词] Williams Syndrome [中文释义] 邻近基因综合征,威廉斯 [英文释义] A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23,encompassing the ELASTIN gene. Clinical manifestations include supravalvular aortic stenosis (AORTIC STENOSIS,SUPRAVALVULAR),MENTAL RETARDATION,elfin facies,impaired visuospatial constructive abilities,and transient hypercalcemia in infancy. The condition affects both sexes,with onset at birth or in early infancy. |
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