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Results 1 - 2 of 2 for "Silver-Russell" syndrome due to a point mutation
  1. Silver-Russell syndrome 
    ... due to 7p11.2p13 microduplication Genetic Testing Registry: Silver-Russell syndrome due to a point mutation Genetic Testing Registry: Silver-Russell syndrome due to ...
    https://medlineplus.gov/genetics/condition/silver-russell-syndrome - Genetics
  2. CDKN1C gene 
    ... W, Haack TB, Heinrich T, Eggermann T. Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome. Clin Epigenetics. 2020 Oct 19;12(1):152. ...
    https://medlineplus.gov/genetics/gene/cdkn1c - Genetics