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dyskeratóza kongenitálna

Subject h.	dyskeratóza kongenitálna
Subject h.	Dyskeratosis Congenita
Entry terms	dyskeratosis congenita, viazaná na X-chromozóm Zinsserov-Coleho-Engmannov syndróm Zinsserov-Coleov-Engmannov syndróm Zinsserov-Engmannov-Coleov syndróm Zinsserov-Engmannov-Coleho syndróm
English X references	Dyskeratosis Congenita, X-Linked Zinsser-Cole-Engman Syndrome
Scope note in English	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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Number of the records: 1