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    • Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome 

      Baris, Hagit N; Chan, Wai-Man; Andrews, Caroline; Behar, Doron M; Donovan, Diana J; Morton, Cynthia C; Ranells, Judith; Pal, Tuya; Ligon, Azra H; Engle, Elizabeth C (Blackwell Publishing Ltd, 2013)
      Key Clinical Message A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. ...