《英文msh词典》X-Linked Dyskeratosis Congenita
[入口词] X-Linked Dyskeratosis Congenita
[主题词] Dyskeratosis Congenita
[中文释义] X连锁先天性角化不良
[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.