\wˈɪli͡əmz sˈɪndɹə͡ʊm], \wˈɪliəmz sˈɪndɹəʊm], \w_ˈɪ_l_iə_m_z s_ˈɪ_n_d_ɹ_əʊ_m]\
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By Princeton University
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.
By DataStellar Co., Ltd
Word of the day
- the time prior to 2,500 million years ago; earth's crust formed; unicellular organisms are earliest forms of life