PROGERIA LIKE SYNDROME
\pɹə͡ʊd͡ʒˈɛɹi͡ə lˈa͡ɪk sˈɪndɹə͡ʊm], \pɹəʊdʒˈɛɹiə lˈaɪk sˈɪndɹəʊm], \p_ɹ_əʊ_dʒ_ˈɛ_ɹ_iə l_ˈaɪ_k s_ˈɪ_n_d_ɹ_əʊ_m]\
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An inherited syndrome phenotypically characterized by unusual facies (large ears and sunken eyes), growth failure, intellectual deterioration, loss of subcutaneous fat, pigmentary retinal degeneration, neural deafness, dwarfism, photosensitivity, optic atrophy, peripheral neuropathy, and cataracts. Pathologic examination reveals a patchy loss of central myelin and white matter atrophy. Cockayne syndrome may be divided into two or more distinct genetic subtypes. (Menkes, Textbook of Child Neurology, 5th ed, p197)
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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.