Dyskeratosis congenita
Name: |
Dyskeratosis congenita
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Description: |
A rare ectodermal dysplasia syndrome that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
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ORPHAcode: |
1775
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Synonyms: |
DC
DKC
Zinsser-Engman-Cole syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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