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. , et al.

GENETICS IN MEDICINE, cilt.20, ss.1528-1537, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 20 Konu: 12
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1038/gim.2018.33
  • Dergi Adı: GENETICS IN MEDICINE
  • Sayfa Sayısı: ss.1528-1537

Özet

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.