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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