Zinsser-Cole-Engman Syndrome
《英文msh詞典》Zinsser-Cole-Engman Syndrome
[同義詞] Zinsser-Cole-Engman Syndrome
[主題詞] Dyskeratosis Congenita
[中文釋義] Zinsser-Cole-Engman綜合征
[英文釋義] 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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