ROYER SYNDROMES
\ɹˈɔ͡ɪə sˈɪndɹə͡ʊmz], \ɹˈɔɪə sˈɪndɹəʊmz], \ɹ_ˈɔɪ_ə s_ˈɪ_n_d_ɹ_əʊ_m_z]\
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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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Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.
Nearby Words
- royalties
- royalty
- royat les bains
- royena
- royer syndrome
- Royer Syndromes
- royers syndrome
- royne
- roynish
- royster
- roysterer