WILLIAMS BEUREN SYNDROME
\wˈɪli͡əmz bjˈuːɹən sˈɪndɹə͡ʊm], \wˈɪliəmz bjˈuːɹən sˈɪndɹəʊm], \w_ˈɪ_l_iə_m_z b_j_ˈuː_ɹ_ə_n s_ˈɪ_n_d_ɹ_əʊ_m]\
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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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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.