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DeCS
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Descriptor English:
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Dyskeratosis Congenita
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Descriptor Spanish:
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Disqueratosis Congénita
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Descriptor Portuguese:
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Disceratose Congênita
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Synonyms English:
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Dyskeratosis Congenita, X-Linked
Zinsser-Cole-Engman Syndrome
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Tree Number:
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C16.131.831.150
C16.320.322.108
C16.320.850.235
C17.800.804.150
C17.800.827.235
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Definition English:
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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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History Note English:
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98
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Allowable Qualifiers English:
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Record Number:
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33362
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Unique Identifier:
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D019871
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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