A novel nonsense variant of NF1 gene in two related patients with different clinical manifestations of neurofibromatosis

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Peker A., Coşkun M., Toylu A., Nur B., Duru A., Altıok Clark Ö., ...More

European Human Genetics Conference 2023, Glasgow, England, 10 - 13 June 2023, pp.1, (Full Text)

  • Publication Type: Conference Paper / Full Text
  • City: Glasgow
  • Country: England
  • Page Numbers: pp.1
  • Akdeniz University Affiliated: Yes

Abstract

We present a truncating novel NF1 gene variant in two patients of the same family; one with cafe-au-lait spots, congenital glaucoma, lumbar arachnoid cyst, scoliosis, and no Lisch nodules, the second patient, first patient’s father only showing cafe-au-lait spots in his current prediagnosis.