Article
Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.
Clinical neurology and neurosurgery - 1 Sept 2021
Ece Solmaz Asli, Isik Esra, Atik Tahir, Ozkinay Ferda, Onay Huseyin
Abstract excerpt
OBJECTIVE: Neurofibromatosis type 1 is one of the most common autosomal dominant diseases caused by heterozygous mutation in the NF1 gene. Wide spectrum of NF1-related clinical manifestations and mutation distribution makes genetic counselling difficult. METHODS: The study enrolled 58 unrelated Turkish patients with clinically suspected NF1 referred to the Department of Medical Genetics. Individuals were eligible...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.