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., ...Daha Fazla

European Human Genetics Conference 2023, Glasgow, İngiltere, 10 - 13 Haziran 2023, ss.1, (Tam Metin Bildiri)

  • Yayın Türü: Bildiri / Tam Metin Bildiri
  • Basıldığı Şehir: Glasgow
  • Basıldığı Ülke: İngiltere
  • Sayfa Sayıları: ss.1
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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.