Browsing Centre for Clinical Pharmacology by Subject "7p22.1 microduplication"

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    • 7p22.1 microduplication syndrome: Refinement of the critical region. 

      Ronzoni, L; Grassi, FS; Pezzani, L; Tucci, A; Baccarin, M; Esposito, S; Milani, D (2017-02)
      7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, ...