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Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?

Marie-Laure VuillaumeM-P MoizardE HammoucheM-A DelrueL PerrinC MafteiC DupontS DrunatE CottereauC BaumannA Toutain
Published in: Clinical genetics (2018)
Keyphrases
  • high throughput
  • rna seq
  • mass spectrometry
  • high density