Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.
Nahla N Abdel-AzizGhada Y El-KamahRabab A KhairatHanan R MohamedYehia Z GadAkmal M El-GhorKhalda Sayed AmrPublished in: Molecular genetics & genomic medicine (2021)
This study illustrates the underlying molecular pathology among Egyptian NF1 patients for the first time. It also reports on 8 novel mutation expanding pathogenic mutational spectra in the NF1 gene.