ROYERS SYNDROME
\ɹˈɔ͡ɪəz sˈɪndɹə͡ʊm], \ɹˈɔɪəz sˈɪndɹəʊm], \ɹ_ˈɔɪ_ə_z s_ˈɪ_n_d_ɹ_əʊ_m]\
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A chromosomal disorder associated with a deletion of the proximal portion of the long arm of chromosome 15 (15q11-q13) in the majority of affected individuals. The abnormalities occur exclusively on the paternally derived chromosome 15. Clinical manifestations include MENTAL RETARDATION, muscular hypotonia, OBESITY, hyperphagia, short stature, hypogonadism, strabismus, and hypersomnolence. (Menkes, Textbook of Child Neurology, 5th ed, p229)
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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.-.