ECTODERMAL DYSPLASIAS
\ˈɛktə͡ʊdəmə͡l dɪsplˈe͡ɪzi͡əz], \ˈɛktəʊdəməl dɪsplˈeɪziəz], \ˈɛ_k_t_əʊ_d_ə_m_əl d_ɪ_s_p_l_ˈeɪ_z_iə_z]\
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A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
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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.