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Dyskeratosis Congenita
Dyskeratosis Congenita, X-Linked | Zinsser-Cole-Engman Syndrome | Congenita, X-Linked Dyskeratosis | Dyskeratosis Congenita, X Linked | Syndrome, Zinsser-Cole-Engman | X-Linked Dyskeratosis Congenita | X-Linked Dyskeratosis Congenitas
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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