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.
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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.-.
Nearby Words
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