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

Yimenicioglu, Sevgi; Yakut, Ayten; Karaer, Kadri; Zenker, Martin; Ekici, Arzu; ÇARMAN, KÜRŞAT

doi:10.1007/s00381-012-1905-7

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, cilt.28, sa.12, ss.2181-2183, 2012 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 28 Sayı: 12
Basım Tarihi: 2012
Doi Numarası: 10.1007/s00381-012-1905-7
Dergi Adı: CHILDS NERVOUS SYSTEM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.2181-2183
Anahtar Kelimeler: Neurofibromatosis type 1, Noonan syndrome, NFNS, Mutation, CLINICAL-FEATURES, DISORDERS, TYPE-1
Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

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.