Commentary: Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I
Author:
Funder
Foundation for the National Institutes of Health
Publisher
Frontiers Media SA
Subject
Genetics(clinical),Genetics,Molecular Medicine
Reference14 articles.
1. Children with 5′-end NF1 gene mutations are more likely to have glioma;Anastasaki;Neurol. Genet.,2017
2. Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning;Anastasaki;Hum. Mol. Genet.,2015
3. Emerging genotype-phenotype relationships in patients with large NF1 deletions;Kehrer-Sawatzki;Hum. Genet.,2017
4. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation;Koczkowska;Genet Med
5. Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844-848;Koczkowska;Am. J. Hum. Genet.
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1. Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center;International Journal of Developmental Neuroscience;2023-06-06
2. A new era for optic pathway glioma: A developmental brain tumor with life-long health consequences;Frontiers in Pediatrics;2023-03-24
3. Identification of Germinal Neurofibromin Hotspots;Biomedicines;2022-08-21
4. Mechanistic insights from animal models of neurofibromatosis type 1 cognitive impairment;Disease Models & Mechanisms;2022-08-01
5. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype;Genes;2022-06-23
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