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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease dyskeratosis congenita
Comorbidity C0027947|neutropenia
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PubMedID- 20817924 This is exemplified by the ‘inherited poikilodermas' dyskeratosis congenita (dc), poikiloderma with neutropenia (pn) and rothmund–thomson syndrome (rts); the overlapping features, particularly the poikiloderma, can often make it difficult to accurately classify a patient into one of these diagnoses.

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