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C176923Level 11

Dyskeratosis Congenita, Autosomal Dominant 3

**Semantic type:** Disease or Syndrome

**Definition:** Dyskeratosis congenita caused by autosomal dominant mutation(s) in the TINF2 gene, encoding TERF1-interacting nuclear factor 2. Mutations in TINF2 may also lead to another phenotype known as Revesz syndrome (Dyskeratosis Congenita, Autosomal Dominant 5).

**Synonyms:** - DKCA3

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