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dyskeratóza kongenitálna

  1. Record numberd019871
    Date06.06.2025
    TypeM - MESH
    Topical termdyskeratóza kongenitálna
    Other termEnglish (Pseudonym) Dyskeratosis Congenita, X-Linked
    English (Pseudonym) Zinsser-Cole-Engman Syndrome
    Slovak (Pseudonym) dyskeratosis congenita, viazaná na X-chromozóm
    Slovak (Pseudonym) Zinsserov-Coleho-Engmannov syndróm
    Slovak (Pseudonym) Zinsserov-Coleov-Engmannov syndróm
    Slovak (Pseudonym) Zinsserov-Engmannov-Coleov syndróm
    Slovak (Pseudonym) Zinsserov-Engmannov-Coleho syndróm
    UDCC15.378.190.223.500.750C16.131.831.150C16.320.322.108C16.320.850.235C17.800.804.150C17.800.827.235
    NoteA 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  

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