Phenotypic expansion illuminates multilocus pathogenic variation


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Karaca E., Posey J. E. , Akdemir Z. C. , Pehlivan D., Harel T., Jhangiani S. N. , ...More

GENETICS IN MEDICINE, vol.20, no.12, pp.1528-1537, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 12
  • Publication Date: 2018
  • Doi Number: 10.1038/gim.2018.33
  • Title of Journal : GENETICS IN MEDICINE
  • Page Numbers: pp.1528-1537

Abstract

Purpose: Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic expansion in cases for which the observed clinical features extend beyond those reported in association with a "known" disease gene.