{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:19:20Z","timestamp":1792804760931,"version":"4.5.0"},"reference-count":119,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T00:00:00Z","timestamp":1655942400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["SG-2018-12367471"],"award-info":[{"award-number":["SG-2018-12367471"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["ALERE 2019 Id343-TRANSITION"],"award-info":[{"award-number":["ALERE 2019 Id343-TRANSITION"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["F\/050347\/01_03\/X32"],"award-info":[{"award-number":["F\/050347\/01_03\/X32"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Inter-University Center for Research in Neurosciences","award":["SG-2018-12367471"],"award-info":[{"award-number":["SG-2018-12367471"]}]},{"name":"Inter-University Center for Research in Neurosciences","award":["ALERE 2019 Id343-TRANSITION"],"award-info":[{"award-number":["ALERE 2019 Id343-TRANSITION"]}]},{"name":"Inter-University Center for Research in Neurosciences","award":["F\/050347\/01_03\/X32"],"award-info":[{"award-number":["F\/050347\/01_03\/X32"]}]},{"name":"Italian Ministry of Economic Development (MiSE)","award":["SG-2018-12367471"],"award-info":[{"award-number":["SG-2018-12367471"]}],"id":[{"id":"https:\/\/ror.org\/011z3ff80","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Italian Ministry of Economic Development (MiSE)","award":["ALERE 2019 Id343-TRANSITION"],"award-info":[{"award-number":["ALERE 2019 Id343-TRANSITION"]}],"id":[{"id":"https:\/\/ror.org\/011z3ff80","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Italian Ministry of Economic Development (MiSE)","award":["F\/050347\/01_03\/X32"],"award-info":[{"award-number":["F\/050347\/01_03\/X32"]}],"id":[{"id":"https:\/\/ror.org\/011z3ff80","id-type":"ROR","asserted-by":"crossref"}]},{"name":"POR Campania FESR 2014\u20132020 \u201cSATIN\u201d grant","award":["SG-2018-12367471"],"award-info":[{"award-number":["SG-2018-12367471"]}]},{"name":"POR Campania FESR 2014\u20132020 \u201cSATIN\u201d grant","award":["ALERE 2019 Id343-TRANSITION"],"award-info":[{"award-number":["ALERE 2019 Id343-TRANSITION"]}]},{"name":"POR Campania FESR 2014\u20132020 \u201cSATIN\u201d grant","award":["F\/050347\/01_03\/X32"],"award-info":[{"award-number":["F\/050347\/01_03\/X32"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations have been discerned in NF1, due to a highly variable clinical presentation. We aimed to study the molecular spectrum of NF1 and genotype-phenotype correlations in a monocentric study cohort of 85 NF1 patients (20 relatives, 65 sporadic cases). Clinical data were collected at the time of the mutation analysis and reviewed for accuracy in this investigation. An internal phenotypic categorization was applied. The 94% of the patients enrolled showed a severe phenotype with at least one systemic complication and a wide range of associated malignancies. Spine deformities were the most common complications in this cohort. We also reported 66 different NF1 mutations, of which 7 are novel mutations. Correlation analysis identified a slight significant inverse correlation between age at diagnosis and delayed acquisition of psychomotor skills with residual multi-domain cognitive impairment. Odds ratio with 95% confidence interval showed a higher prevalence of learning disabilities in patients carrying frameshift mutations. Overall, our results aim to offer an interesting contribution to studies on the genotype\u2013phenotype of NF1 and in genetic management and counselling.<\/jats:p>","DOI":"10.3390\/genes13071130","type":"journal-article","created":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T21:25:00Z","timestamp":1656019500000},"page":"1130","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype"],"prefix":"10.3390","volume":"13","author":[{"given":"Filomena","family":"Napolitano","sequence":"first","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania \u201cLuigi Vanvitelli\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milena","family":"Dell\u2019Aquila","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania \u201cLuigi Vanvitelli\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Terracciano","sequence":"additional","affiliation":[{"name":"Neurology Unit, Azienda Unit\u00e0 Sanitaria Locale di Piacenza, 29121 Piacenza, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Franzese","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania \u201cLuigi Vanvitelli\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4239-5330","authenticated-orcid":false,"given":"Maria Teresa","family":"Gentile","sequence":"additional","affiliation":[{"name":"Laboratory of Cellular and Molecular Neuropathology, Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania \u201cLuigi Vanvitelli\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9418-125X","authenticated-orcid":false,"given":"Giulio","family":"Piluso","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, Via L. De Crecchio 7, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4547-0500","authenticated-orcid":false,"given":"Claudia","family":"Santoro","sequence":"additional","affiliation":[{"name":"Department of Women\u2019s and Children\u2019s Health and General and Specialized Surgery, University of Campania \u201cLuigi Vanvitelli\u201d, Via Luigi De Crecchio 2, 80138 Naples, Italy"},{"name":"Department of Mental and Physical Health and Preventive Medicine, Clinic of Child and Adolescent Neuropsychiatry, University of Campania \u201cLuigi Vanvitelli\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Colavito","sequence":"additional","affiliation":[{"name":"R&I Genetics SRL, 35127 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Patan\u00e8","sequence":"additional","affiliation":[{"name":"R&I Genetics SRL, 35127 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1317-7994","authenticated-orcid":false,"given":"Paolo","family":"De Blasiis","sequence":"additional","affiliation":[{"name":"Department of Mental and Physical Health and Preventive Medicine, Section of Human Anatomy, University of Campania \u201cLuigi Vanvitelli\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1383-6638","authenticated-orcid":false,"given":"Simone","family":"Sampaolo","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania \u201cLuigi Vanvitelli\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5332-6774","authenticated-orcid":false,"given":"Simona","family":"Paladino","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology, InterUniversity Center for Research in Neurosciences, University of Naples \u201cFederico II\u201d, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7213-9277","authenticated-orcid":false,"given":"Mariarosa Anna Beatrice","family":"Melone","sequence":"additional","affiliation":[{"name":"Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania \u201cLuigi Vanvitelli\u201d, 80131 Naples, Italy"},{"name":"Sbarro Institute for Cancer Research and Molecular Medicine, Center for Biotechnology, Temple University, Philadelphia, PA 19122, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1542\/peds.2007-3204","article-title":"Neurofibromatosis type 1 revisited","volume":"123","author":"Williams","year":"2009","journal-title":"Pediatrics"},{"key":"ref_2","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Mirzaa, G., and Amemiya, A. (2019). Neurofibromatosis 1. GeneReviews, University of Washington."},{"key":"ref_3","first-page":"575","article-title":"Neurofibromatosis: Conference statement: National Institutes of Health Consensus Development Conference","volume":"45","author":"Stumpf","year":"1988","journal-title":"Arch. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1038\/s41436-021-01170-5","article-title":"International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Evans DG, Plotkin SR. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: An international consensus recommendation","volume":"23","author":"Legius","year":"2021","journal-title":"Genet Med."},{"key":"ref_5","first-page":"e371","article-title":"Cutaneous manifestations in neurofibromatosis type 1","volume":"171","author":"Miraglia","year":"2020","journal-title":"Clin. Ter."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1542\/peds.105.3.608","article-title":"Use of the National Institutes of Health criteria for the diagnosis of neurofibromatosis 1 in children","volume":"105","author":"DeBella","year":"2000","journal-title":"Pediatrics"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1517\/17530059.2010.494660","article-title":"Neurofibromatosis type 1: Diagnosis and recent advances","volume":"4","author":"Upadhyaya","year":"2010","journal-title":"Expert Opin. Med. Diagn."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/GIM.0b013e3181bf15e3","article-title":"Clinical and genetic aspects of neurofibromatosis 1","volume":"12","author":"Jett","year":"2010","journal-title":"Genet. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1634\/theoncologist.2010-0181","article-title":"Neoplasms associated with germline and somatic NF1 gene mutations","volume":"17","author":"Patil","year":"2012","journal-title":"Oncologist"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1038\/labinvest.2016.142","article-title":"The NF1 gene in tumor syndromes and melanoma","volume":"97","author":"Kiuru","year":"2017","journal-title":"Lab. Investig."},{"key":"ref_11","first-page":"1699","article-title":"Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1 (NF1): Diagnostic findings on magnetic resonance images and mutation analysis of the NF1 gene","volume":"25","author":"Friedrich","year":"2005","journal-title":"Anticancer Res."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s11910-009-0036-3","article-title":"Neurofibromatosis type 1 and associated malignancies","volume":"9","author":"Yohay","year":"2009","journal-title":"Curr. Neurol Neurosci."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1055\/s-0034-1382021","article-title":"Neurofibromatosis type 1 (NF1) and associated tumors","volume":"226","author":"Rosenbaum","year":"2014","journal-title":"Klin. Padiatr."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"e927761","DOI":"10.12659\/AJCR.927761","article-title":"Pancreatic Gastrinoma, Gastrointestinal Stromal Tumor (GIST), Pheochromocytoma, and H\u00fcrthle Cell Neoplasm in a Patient with Neurofibromatosis Type 1: A Case Report and Literature Review","volume":"22","author":"Arif","year":"2021","journal-title":"Am. J. Case Rep."},{"key":"ref_15","unstructured":"Kaufmann, D. (2008). The neurofibromatosis: Classification, Clinical Features and Genetic Counselling. Neurofibromatoses, Karger Publishers."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"E103","DOI":"10.1002\/humu.20793","article-title":"Germline and somatic NF1 gene mutations in plexiform neurofibromas","volume":"29","author":"Upadhyaya","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1111\/ahg.12272","article-title":"Neurofibromatosis type I: Mutation spectrum of NF1 in spanish patients","volume":"82","author":"Milla","year":"2018","journal-title":"Ann. Hum. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1002\/j.1460-2075.1993.tb05841.x","article-title":"Characterization of full-length neurofibromin: Tubulin inhibits Ras GAP activity","volume":"12","author":"Bollag","year":"1993","journal-title":"EMBO J."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/ng0293-122","article-title":"Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis","volume":"3","author":"Legius","year":"1993","journal-title":"Nat. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1136\/jmg.2007.055772","article-title":"Clinical and molecular aspects of RAS related disorders","volume":"45","author":"Denayer","year":"2008","journal-title":"J. Med. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Mao, B., Chen, S., Chen, X., Yu, X., Zhai, X., Yang, T., Li, L., Wang, Z., Zhao, X., and Zhang, X. (2018). Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1. BMC Med. Genet., 19.","DOI":"10.1186\/s12881-018-0615-8"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2285","DOI":"10.1007\/s00381-020-04771-8","article-title":"Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism","volume":"36","author":"Legius","year":"2020","journal-title":"Childs Nerv. Syst."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/ng.3469","article-title":"Timing, rates and spectra of human germline mutation","volume":"48","author":"Rahbari","year":"2016","journal-title":"Nat. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1111\/jnc.13396","article-title":"A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1","volume":"135","author":"Esposito","year":"2015","journal-title":"J. Neurochem."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1136\/jmg.2007.053785","article-title":"Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification","volume":"44","author":"Bottillo","year":"2007","journal-title":"J. Med. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1136\/jmg.2009.075937","article-title":"Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions","volume":"47","author":"Mautner","year":"2010","journal-title":"J. Med. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"E1506","DOI":"10.1002\/humu.21271","article-title":"NF1 microdeletions in neurofibromatosis type 1: From genotype to phenotype","volume":"31","author":"Pasmant","year":"2010","journal-title":"Hum. Mutat."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1007\/s10048-012-0332-y","article-title":"Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions","volume":"13","author":"Vogt","year":"2012","journal-title":"Neurogenetics"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1086\/510781","article-title":"An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation","volume":"80","author":"Upadhyaya","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.ajhg.2017.12.001","article-title":"Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848","volume":"102","author":"Koczkowska","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1038\/ejhg.2014.243","article-title":"p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas","volume":"23","author":"Pinna","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1002\/humu.22832","article-title":"High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation","volume":"36","author":"Rojnueangnit","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1038\/ejhg.2015.93","article-title":"Arg(1809) substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1","volume":"23","author":"Santoro","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/humu.23929","article-title":"Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: Genotype-phenotype study in neurofibromatosis type 1","volume":"41","author":"Koczkowska","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Scala, M., Schiavetti, I., Madia, F., Chelleri, C., Piccolo, G., Accogli, A., Riva, A., Salpietro, V., Bocciardi, R., and Morcaldi, G. (2021). Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study. Cancers, 13.","DOI":"10.3390\/cancers13081879"},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Giugliano, T., Santoro, C., Torella, A., Del Vecchio Blanco, F., Grandone, A., Onore, M.E., Melone, M., Straccia, G., Melis, D., and Piccolo, V. (2019). Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. Genes, 10.","DOI":"10.3390\/genes10080580"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1038\/gim.2017.37","article-title":"Sherloc: A comprehensive refinement of the ACMG-AMP variant classification criteria","volume":"19","author":"Nykamp","year":"2017","journal-title":"Genet. Med."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1510","DOI":"10.1002\/humu.22392","article-title":"NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: The French experience","volume":"34","author":"Sabbagh","year":"2013","journal-title":"Hum. Mutat."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"e48","DOI":"10.1136\/jmg.2003.011890","article-title":"Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain","volume":"41","author":"Mattocks","year":"2004","journal-title":"J. Med. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1136\/jmedgenet-2018-105599","article-title":"Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: A new genotype-phenotype correlation","volume":"56","author":"Frayling","year":"2019","journal-title":"J. Med. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"e82","DOI":"10.1136\/jmg.40.6.e82","article-title":"Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients","volume":"40","author":"Ars","year":"2003","journal-title":"J. Med. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/BF00214193","article-title":"Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene","volume":"96","author":"Robinson","year":"1995","journal-title":"Hum. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/1897-4287-9-6","article-title":"Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas","volume":"9","author":"Ponti","year":"2011","journal-title":"Hered. Cancer Clin. Pract."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.ajhg.2015.06.002","article-title":"Decoding NF1 Intragenic Copy-Number Variations","volume":"97","author":"Hsiao","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1093\/hmg\/4.6.975","article-title":"Distribution of 13 truncating mutations in the neurofibromatosis 1 gene","volume":"4","author":"Heim","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1086\/423624","article-title":"High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene","volume":"75","author":"Kluwe","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1136\/jmg.2005.033795","article-title":"Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH","volume":"43","author":"Mantripragada","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1002\/humu.22171","article-title":"Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder","volume":"33","author":"Vogt","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1002\/humu.22013","article-title":"Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+\/\u2212) stem cells","volume":"33","author":"Roehl","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s00439-018-1904-1","article-title":"Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences","volume":"137","author":"Summerer","year":"2018","journal-title":"Hum. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"4295","DOI":"10.1002\/elps.200700118","article-title":"Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing","volume":"28","author":"Brinckmann","year":"2007","journal-title":"Electrophoresis"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.pediatrneurol.2013.02.004","article-title":"Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1","volume":"48","author":"Ko","year":"2013","journal-title":"Pediatr. Neurol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.jns.2018.10.006","article-title":"Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA","volume":"395","author":"Tsipi","year":"2018","journal-title":"J. Neurol. Sci."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.ebiom.2016.04.005","article-title":"Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases with Pigmentary Features Only","volume":"7","author":"Evans","year":"2016","journal-title":"EBioMedicine."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1002\/(SICI)1098-1004(1997)10:3<248::AID-HUMU14>3.0.CO;2-#","article-title":"Six novel mutations in the the neurofibromatosis type 1 (NF1) gene","volume":"10","author":"Upadhyaya","year":"1997","journal-title":"Hum. Mutat."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1002\/humu.21405","article-title":"Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin","volume":"32","author":"Welti","year":"2011","journal-title":"Hum. Mutat."},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Stella, A., Lastella, P., Loconte, D.C., Bukvic, N., Varvara, D., Patruno, M., Bagnulo, R., Lovaglio, R., Bartolomeo, N., and Serio, G. (2018). Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1. Genes, 9.","DOI":"10.3390\/genes9040216"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1055\/s-0037-1620239","article-title":"Phenotype-Genotype Correlation in Children with Neurofibromatosis Type 1","volume":"49","author":"Barrea","year":"2018","journal-title":"Neuropediatrics"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"11291","DOI":"10.1038\/srep11291","article-title":"Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population","volume":"5","author":"Zhang","year":"2015","journal-title":"Sci. Rep."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1002\/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N","article-title":"Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects","volume":"15","author":"Messiaen","year":"2000","journal-title":"Hum. Mutat."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1186\/1479-7364-5-6-623","article-title":"Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis","volume":"5","author":"Thomas","year":"2011","journal-title":"Hum. Genomics"},{"key":"ref_63","doi-asserted-by":"crossref","unstructured":"Yao, R., Yu, T., Xu, Y., Yu, L., Wang, J., Wang, X., Wang, J., and Shen, Y. (2019). Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children. Genes, 10.","DOI":"10.3390\/genes10110847"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s10689-006-9001-3","article-title":"Molecular diagnosis of neurofibromatosis type 1: 2 years experience","volume":"6","author":"Griffiths","year":"2007","journal-title":"Fam. Cancer"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1177\/1947601912443127","article-title":"Increased wild-type N-ras activation by neurofibromin down-regulation increases human neuroblastoma stem cell malignancy","volume":"2","author":"Han","year":"2011","journal-title":"Genes Cancer"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1002\/ajmg.a.33386","article-title":"Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion","volume":"152A","author":"Bottillo","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/jhg.2015.6","article-title":"NF1 single and multi-exons copy number variations in neurofibromatosis type 1","volume":"60","author":"Imbard","year":"2015","journal-title":"J. Hum. Genet."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1038\/ejhg.2014.145","article-title":"Neurofibromatosis type 1 molecular diagnosis: What can NGS do for you when you have a large gene with loss of function mutations?","volume":"23","author":"Pasmant","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1002\/humu.9446","article-title":"Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1","volume":"27","author":"Lee","year":"2006","journal-title":"Hum. Mutat."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1086\/302809","article-title":"Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain","volume":"66","author":"Fahsold","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1002\/humu.9245","article-title":"Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1","volume":"23","author":"Schirinzi","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1002\/ajmg.a.32305","article-title":"Congenital disseminated neurofibromatosis type 1: A clinical and molecular case report","volume":"146A","author":"Stewart","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1002\/pbc.22297","article-title":"Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia","volume":"54","author":"Raygada","year":"2010","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1038\/jhg.2016.33","article-title":"Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1","volume":"61","author":"Jang","year":"2016","journal-title":"J. Hum. Genet."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1086\/302747","article-title":"Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1","volume":"66","author":"Eisenbarth","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1002\/humu.20389","article-title":"Comprehensive NF1 screening on cultured Schwann cells from neurofibromas","volume":"27","author":"Maertens","year":"2006","journal-title":"Hum. Mutat."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"2784","DOI":"10.1210\/jc.2006-2833","article-title":"Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1","volume":"92","author":"Bausch","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/ejhg.2012.221","article-title":"Increased rate of missense\/in-frame mutations in individuals with NF1-related pulmonary stenosis: A novel genotype-phenotype correlation","volume":"21","author":"Constantini","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1002\/humu.24005","article-title":"AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3\u2019 splice site mutations outside the canonical AG-dinucleotides","volume":"41","author":"Wimmer","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJM199706123362404","article-title":"Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders","volume":"336","author":"Side","year":"1997","journal-title":"N. Engl. J. Med."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.ejmg.2016.11.001","article-title":"Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM\u2122 platform","volume":"60","author":"Chiavetta","year":"2017","journal-title":"Eur. J. Med. Genet."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1111\/bjd.16929","article-title":"Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1","volume":"179","author":"Marwaha","year":"2018","journal-title":"Br. J. Dermatol."},{"key":"ref_83","doi-asserted-by":"crossref","unstructured":"Chai, P., Luo, Y., Zhou, C., Wang, Y., Fan, X., and Jia, R. (2019). Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital\/periorbital plexiform Neurofibromatosis type 1. BMC Med. Genet., 20.","DOI":"10.1186\/s12881-019-0877-9"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1186\/s13023-019-1196-0","article-title":"Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: Genetic and clinical analysis of 75 patients","volume":"14","author":"Zhu","year":"2019","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/humu.9111","article-title":"NF1 gene analysis based on DHPLC","volume":"21","author":"Buccino","year":"2003","journal-title":"Hum. Mutat."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1089\/gtmb.2014.0109","article-title":"The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: A validation study","volume":"18","author":"Maruoka","year":"2014","journal-title":"Genet. Test. Mol. Biomarkers"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1007\/s00381-013-2352-9","article-title":"The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE","volume":"30","author":"Ali","year":"2014","journal-title":"Childs Nerv. Syst."},{"key":"ref_88","doi-asserted-by":"crossref","unstructured":"Cunha, K.S., Oliveira, N.S., Fausto, A.K., De Souza, C.C., Gros, A., Bandres, T., Idrissi, Y., Merlio, J.P., de Moura Neto, R.S., and Silva, R. (2016). Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene. Genes, 7.","DOI":"10.3390\/genes7120133"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1111\/ahg.12026","article-title":"Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients","volume":"77","author":"Nemethova","year":"2013","journal-title":"Ann. Hum. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1007\/s004399900135","article-title":"Evaluation of the protein truncation test and mutation detection in the NF1 gene: Mutational analysis of 15 known and 40 unknown mutations","volume":"105","author":"Osborn","year":"1999","journal-title":"Hum. Genet."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1136\/jmg.35.10.813","article-title":"Neurofibromatosis type 1 (NF1): A protein truncation assay yielding identification of mutations in 73% of patients","volume":"35","author":"Park","year":"1998","journal-title":"J. Med. Genet."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1002\/humu.20493","article-title":"Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5\u2019 splice-site disruption","volume":"28","author":"Wimmer","year":"2007","journal-title":"Hum. Mutat."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"3518","DOI":"10.1093\/hmg\/ddv103","article-title":"Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning","volume":"24","author":"Anastasaki","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/pbc.25812","article-title":"Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1","volume":"63","author":"Yap","year":"2016","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"3168","DOI":"10.1038\/onc.2016.464","article-title":"The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas","volume":"36","author":"Pemov","year":"2017","journal-title":"Oncogene"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/s13052-018-0483-z","article-title":"Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1","volume":"44","author":"Corsello","year":"2018","journal-title":"Ital. J. Pediatr."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.1007\/s10072-011-0897-5","article-title":"An histologically atypical NF-type 1 patient with a new pathogenic mutation","volume":"33","author":"Bianco","year":"2012","journal-title":"Neurol. Sci."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"4083","DOI":"10.1038\/s41467-018-06581-8","article-title":"Germline pathogenic variants of 11 breast cancer genes in 7051 Japanese patients and 11,241 controls","volume":"9","author":"Momozawa","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"50","DOI":"10.3389\/fgene.2019.00050","article-title":"SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family with Brugada Syndrome and Neurofibromatosis","volume":"10","author":"Micaglio","year":"2019","journal-title":"Front. Genet."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.jdermsci.2005.05.003","article-title":"Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis","volume":"39","author":"Cai","year":"2005","journal-title":"J. Dermatol. Sci."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"e192","DOI":"10.1212\/NXG.0000000000000192","article-title":"Children with 5\u2019-end NF1 gene mutations are more likely to have glioma","volume":"3","author":"Anastasaki","year":"2017","journal-title":"Neurol. Genet."},{"key":"ref_102","first-page":"9","article-title":"Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1","volume":"7","author":"Chen","year":"2019","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1002\/ajmg.a.38212","article-title":"Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience","volume":"173","author":"Santoro","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_104","doi-asserted-by":"crossref","unstructured":"Santoro, C., Giugliano, T., Kraemer, M., Torella, A., Schwitalla, J.C., Cirillo, M., Melis, D., Berlit, P., Nigro, V., and Perrotta, S. (2018). Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. PLoS ONE, 13.","DOI":"10.1371\/journal.pone.0200446"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1038\/gim.2013.92","article-title":"Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee. ACMG clinical laboratory standards for next-generation sequencing","volume":"15","author":"Rehm","year":"2013","journal-title":"Genet. Med."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/gim.2013.73","article-title":"American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing","volume":"15","author":"Green","year":"2013","journal-title":"Genet. Med."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/s00586-004-0829-7","article-title":"Spinal deformity in neurofibromatosis type-1: Diagnosis and treatment","volume":"14","author":"Tsirikos","year":"2005","journal-title":"Eur. Spine J."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1080\/02688697.2019.1673313","article-title":"The association of spinal deformity with dural ectasia in neurofibromatosis type 1","volume":"33","author":"Shah","year":"2019","journal-title":"Br. J. Neurosurg."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1212\/01.wnl.0000179303.72345.ce","article-title":"The nature and frequency of cognitive deficits in children with neurofibromatosis type 1","volume":"65","author":"Hyman","year":"2005","journal-title":"Neurology"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/1096-8628(20001113)95:2<108::AID-AJMG4>3.0.CO;2-0","article-title":"Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1","volume":"95","author":"Lin","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1007\/s00467-003-1397-5","article-title":"Blood pressure and cardiovascular involvement in children with neurofibromatosis type1","volume":"19","author":"Lama","year":"2004","journal-title":"Pediatr. Nephrol."},{"key":"ref_112","first-page":"714","article-title":"Neurofibromatosis type 1 and cardiac manifestations","volume":"43","year":"2015","journal-title":"Turk. Kardiyol. Dern Ars."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1200\/JCO.2015.65.3576","article-title":"Distinctive Cancer Associations in Patients with Neurofibromatosis Type 1","volume":"34","author":"Uusitalo","year":"2016","journal-title":"J. Clin. Oncol."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/j.amsu.2020.08.015","article-title":"Plexiform neurofibroma with neurofibromatosis type I\/ von Recklinghausen\u2019s disease: A rare case report","volume":"57","author":"Poswal","year":"2020","journal-title":"Ann. Med. Surg."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1136\/jmg.2006.048140","article-title":"Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1","volume":"44","author":"McCaughan","year":"2007","journal-title":"J. Med. Genet."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"270","DOI":"10.3389\/fgene.2018.00270","article-title":"Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I","volume":"9","author":"Xu","year":"2018","journal-title":"Front. Genet."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"115","DOI":"10.3389\/fgene.2019.00115","article-title":"Commentary: Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I","volume":"10","author":"Anastasaki","year":"2019","journal-title":"Front. Genet."},{"key":"ref_118","doi-asserted-by":"crossref","unstructured":"Melloni, G., Eoli, M., Cesaretti, C., Bianchessi, D., Ibba, M.C., Esposito, S., Scuvera, G., Morcaldi, G., Micheli, R., and Piozzi, E. (2019). Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort. Cancers, 11.","DOI":"10.3390\/cancers11121838"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"704639","DOI":"10.3389\/fneur.2021.704639","article-title":"Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1","volume":"12","author":"Wang","year":"2021","journal-title":"Front. Neurol."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/7\/1130\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:38:50Z","timestamp":1760139530000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/7\/1130"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,23]]},"references-count":119,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2022,7]]}},"alternative-id":["genes13071130"],"URL":"https:\/\/doi.org\/10.3390\/genes13071130","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,23]]}}}