A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype

Yimenicioglu S., Yakut A., Karaer K., Zenker M., Ekici A., ÇARMAN K. B.

CHILDS NERVOUS SYSTEM, vol.28, no.12, pp.2181-2183, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 12
  • Publication Date: 2012
  • Doi Number: 10.1007/s00381-012-1905-7
  • Journal Name: CHILDS NERVOUS SYSTEM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2181-2183
  • Keywords: Neurofibromatosis type 1, Noonan syndrome, NFNS, Mutation, CLINICAL-FEATURES, DISORDERS, TYPE-1
  • Eskisehir Osmangazi University Affiliated: Yes

Abstract

Neurofibromatosis-Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients.