Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype

Terzi Y. K., Sirin B., Serdaroglu E., Anlar B., AYSÜN S., Hosgor G., ...Daha Fazla

CHILDS NERVOUS SYSTEM, cilt.27, sa.12, ss.2113-2116, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 12
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1007/s00381-011-1512-z
  • Dergi Adı: CHILDS NERVOUS SYSTEM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2113-2116
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by caf,-au-lait spots, neurofibromas, skinfold freckles, Lisch nodules, bone deformities, learning disabilities, and predisposition to neoplasms. It is caused by various mutations of the NF1 gene. Recently a 3-bp in-frame deletion in exon 17, c.2970-2972 delAAT mutation, has been associated with a milder phenotype of NF1 manifesting with pigmentary skin changes only.