A novel mutation in theNF1gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma
Author:
Publisher
Wiley
Subject
Oncology,Hematology,Pediatrics, Perinatology, and Child Health
Reference11 articles.
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2. Von Recklinghausen neurofibromatosis: II. Incidence of optic gliomata;Lewis;Ophthalmology,1984
3. Optic gliomata affecting twins with neurofibromatosis;Crawford;Dev Med Child Neurol,1983
4. Concordant optic glioma in a pair of monozygotic twins with neurofibromatosis;Cartwright;Clinic Pediatr(Phila),1982
5. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors;Upadhyaya;Hum Mutat,2004
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1. Clinical signs and genetic evaluation of patients with neurofibromatosis type 1 with and without optic pathway gliomas in a center in Turkey;Child's Nervous System;2023-07-04
2. Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients;Annals of Human Genetics;2021-04-20
3. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study;Cancers;2021-04-14
4. Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2;Molecular Genetics & Genomic Medicine;2020-06-13
5. Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children;The Journal of Dermatology;2015-10-13
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