ZINSSER COLE ENGMAN SYNDROME
\zˈɪnsə kˈə͡ʊl ɛnɡmˈan sˈɪndɹə͡ʊm], \zˈɪnsə kˈəʊl ɛnɡmˈan sˈɪndɹəʊm], \z_ˈɪ_n_s_ə k_ˈəʊ_l ɛ_n_ɡ_m_ˈa_n s_ˈɪ_n_d_ɹ_əʊ_m]\
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A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10 (4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
By DataStellar Co., Ltd
Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.
Nearby Words
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