单词 | Syndrome,Zinsser-Cole-Engman |
释义 | Syndrome,Zinsser-Cole-Engman《英文msh词典》Syndrome,Zinsser-Cole-Engman [入口词] Syndrome,Zinsser-Cole-Engman [主题词] Dyskeratosis Congenita [英文释义] 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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