Article
Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
Molecular genetics & genomic medicine - 1 Dec 2021
N Abdel-Aziz Nahla, Y El-Kamah Ghada, A Khairat Rabab, R Mohamed Hanan, Z Gad Yehia, El-Ghor Akmal M, Amr Khalda S
Abstract excerpt
BACKGROUND: Neurofibromatosis 1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disease [incidence: ~1:3500]. In 95% of cases, clinical diagnosis of the disease is based on the presence of at least two of the seven National Institute of Health diagnostic criteria. The molecular pathology underlying this disorder entails mutation in the NF1 gene. The aim of this study was to investigate clinical and...
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