{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:24:07Z","timestamp":1790627047745,"version":"4.1.0"},"reference-count":42,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2019,8,22]],"date-time":"2019-08-22T00:00:00Z","timestamp":1566432000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene has one of the highest mutation rates in human disorders, which may explain the outbreak of independent de novo variants in the same family. Here, we report the co-occurrence of pathogenic variants in the NF1 and SPRED1 genes in six families with NF1 and Legius syndrome, using next-generation sequencing. In five of these families, we observed the co-occurrence of two independent NF1 variants. All NF1 variants were classified as pathogenic, according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) guidelines. In the sixth family, one sibling inherited a complete deletion of the NF1 gene from her mother and carried a variant of unknown significance in the SPRED1 gene. This variant was also present in her brother, who was diagnosed with Legius syndrome, a differential diagnosis of NF1. This work illustrates the complexity of molecular diagnosis in a not-so-rare genetic disease.<\/jats:p>","DOI":"10.3390\/genes10090633","type":"journal-article","created":{"date-parts":[[2019,8,23]],"date-time":"2019-08-23T10:15:07Z","timestamp":1566555307000},"page":"633","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["One NF1 Mutation may Conceal Another"],"prefix":"10.3390","volume":"10","author":[{"given":"Laurence","family":"Pacot","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, H\u00f4pital Cochin, HUPC, Assistance Publique-H\u00f4pitaux de Paris, 75014 Paris, France"},{"name":"Institut Cochin, INSERM U1016, Universit\u00e9 Paris Descartes, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9720-5536","authenticated-orcid":false,"given":"Cyril","family":"Burin des Roziers","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, H\u00f4pital Cochin, HUPC, Assistance Publique-H\u00f4pitaux de Paris, 75014 Paris, France"},{"name":"Institut Cochin, INSERM U1016, Universit\u00e9 Paris Descartes, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Laurendeau","sequence":"additional","affiliation":[{"name":"Institut Cochin, INSERM U1016, Universit\u00e9 Paris Descartes, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Briand-Suleau","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, H\u00f4pital Cochin, HUPC, Assistance Publique-H\u00f4pitaux de Paris, 75014 Paris, France"},{"name":"Institut Cochin, INSERM U1016, Universit\u00e9 Paris Descartes, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Coustier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, H\u00f4pital Cochin, HUPC, Assistance Publique-H\u00f4pitaux de Paris, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Th\u00e9odora","family":"Mayard","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, H\u00f4pital Cochin, HUPC, Assistance Publique-H\u00f4pitaux de Paris, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3342-1704","authenticated-orcid":false,"given":"Camille","family":"Tlemsani","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, H\u00f4pital Cochin, HUPC, Assistance Publique-H\u00f4pitaux de Paris, 75014 Paris, France"},{"name":"Institut Cochin, INSERM U1016, Universit\u00e9 Paris Descartes, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Inserm, UMR 1231, G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Universit\u00e9 de Bourgogne, 21079 Dijon, France"},{"name":"Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, H\u00f4pital d\u2019Enfants, 21079 Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quentin","family":"Thomas","sequence":"additional","affiliation":[{"name":"Inserm, UMR 1231, G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Universit\u00e9 de Bourgogne, 21079 Dijon, France"},{"name":"Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, H\u00f4pital d\u2019Enfants, 21079 Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6594-1985","authenticated-orcid":false,"given":"Diana","family":"Rodriguez","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and National Reference Center for Neurogenetic Disorders, Armand Trousseau Hospital, GHUEP, AP-HP, INSERM U1141, 75012 Paris, France"},{"name":"GRC n\u00b019 ConCer-LD, Sorbonne Universit\u00e9, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Blesson","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, CHRU de Tours, 37044 Tours, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence pour les Affections Rares en G\u00e9n\u00e9tique Ophtalmologique (CARGO), H\u00f4pital Civil, 67091 Strasbourg, France"},{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital de Hautepierre, 67200 Strasbourg, France"},{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U1112, 67000 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvon-Gauthier","family":"Muller","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital de Hautepierre, 67200 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9atrice","family":"Parfait","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, H\u00f4pital Cochin, HUPC, Assistance Publique-H\u00f4pitaux de Paris, 75014 Paris, France"},{"name":"Institut Cochin, INSERM U1016, Universit\u00e9 Paris Descartes, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Vidaud","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, H\u00f4pital Cochin, HUPC, Assistance Publique-H\u00f4pitaux de Paris, 75014 Paris, France"},{"name":"Institut Cochin, INSERM U1016, Universit\u00e9 Paris Descartes, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Gilbert-Dussardier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, EA3808, Universit\u00e9 de Poitiers, CHU de Poitiers, 86000 Poitiers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0049-3058","authenticated-orcid":false,"given":"Catherine","family":"Yardin","sequence":"additional","affiliation":[{"name":"Department of Cytogenetics and clinical genetics, Limoges University Hospital, 87042 Limoges, France"},{"name":"UMR 7252, Limoges University, CNRS, XLIM, 87000 Limoges, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Dauriat","sequence":"additional","affiliation":[{"name":"Department of Cytogenetics and clinical genetics, Limoges University Hospital, 87042 Limoges, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Derancourt","sequence":"additional","affiliation":[{"name":"EA 4537, Antilles University, 97261 Fort-de-France, Martinique, France"},{"name":"DRCI, Martinique University Hospital, 97261 Fort-de-France, Martinique, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Vidaud","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, H\u00f4pital Cochin, HUPC, Assistance Publique-H\u00f4pitaux de Paris, 75014 Paris, France"},{"name":"Institut Cochin, INSERM U1016, Universit\u00e9 Paris Descartes, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1881-8762","authenticated-orcid":false,"given":"Eric","family":"Pasmant","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, H\u00f4pital Cochin, HUPC, Assistance Publique-H\u00f4pitaux de Paris, 75014 Paris, France"},{"name":"Institut Cochin, INSERM U1016, Universit\u00e9 Paris Descartes, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,8,22]]},"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","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1136\/jmg.2006.045906","article-title":"Guidelines for the diagnosis and management of individuals with neurofibromatosis 1","volume":"44","author":"Ferner","year":"2007","journal-title":"J. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1212\/01.wnl.0000168830.79997.13","article-title":"Association between benign and malignant peripheral nerve sheath tumors in NF1","volume":"65","author":"Tucker","year":"2005","journal-title":"Neurology"},{"key":"ref_4","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_5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1096-8628(19990326)89:1<1::AID-AJMG3>3.0.CO;2-8","article-title":"Epidemiology of neurofibromatosis type 1","volume":"89","author":"Friedman","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_6","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_7","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1111\/j.1750-3639.1995.tb00589.x","article-title":"Neurofibromatosis type 1: Pathology, clinical features and molecular genetics","volume":"5","author":"Krone","year":"1995","journal-title":"Brain Pathol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/0092-8674(90)90024-9","article-title":"The neurofibromatosis type 1 gene encodes a protein related to GAP","volume":"62","author":"Xu","year":"1990","journal-title":"Cell"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1007\/BF00208923","article-title":"Neurofibromatosis-1: A maximum likelihood estimation of mutation rate","volume":"84","author":"Clementi","year":"1990","journal-title":"Hum. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/humu.10299","article-title":"Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene","volume":"23","author":"Kluwe","year":"2004","journal-title":"Hum. Mutat."},{"key":"ref_11","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_12","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_13","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1038\/ng2113","article-title":"Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype","volume":"39","author":"Brems","year":"2007","journal-title":"Nat. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1136\/jmg.2008.065243","article-title":"SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype","volume":"46","author":"Pasmant","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.1002\/humu.22152","article-title":"Review and update of SPRED1 mutations causing Legius syndrome","volume":"33","author":"Brems","year":"2012","journal-title":"Hum. Mutat."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1038\/35088082","article-title":"Spred is a Sprouty-related suppressor of Ras signalling","volume":"412","author":"Wakioka","year":"2001","journal-title":"Nature"},{"key":"ref_17","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_18","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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_19","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_20","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_21","doi-asserted-by":"crossref","first-page":"E173","DOI":"10.1002\/humu.20826","article-title":"Nature and mRNA effect of 282 different NF1 point mutations: Focus on splicing alterations","volume":"29","author":"Pros","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_22","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_23","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1002\/(SICI)1096-8628(19990305)83:1<6::AID-AJMG3>3.0.CO;2-E","article-title":"Two independent mutations in a family with neurofibromatosis type 1 (NF1)","volume":"83","author":"Klose","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1007\/s00439-002-0840-1","article-title":"Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1","volume":"112","author":"Upadhyaya","year":"2003","journal-title":"Hum. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2111","DOI":"10.1001\/jama.2009.1663","article-title":"Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome","volume":"302","author":"Messiaen","year":"2009","journal-title":"JAMA"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.20023","article-title":"Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS)","volume":"119","author":"Baralle","year":"2003","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1086\/498454","article-title":"NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome","volume":"77","author":"Bottillo","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1111\/j.1399-0004.2006.00576.x","article-title":"Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype","volume":"69","author":"Stevenson","year":"2006","journal-title":"Clin. Genet."},{"key":"ref_29","first-page":"2749","article-title":"A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene","volume":"140","author":"Zenker","year":"2006","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1111\/j.1399-0004.2009.01233.x","article-title":"Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1","volume":"76","author":"Ekvall","year":"2009","journal-title":"Clin. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1002\/ajmg.a.36313","article-title":"Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome","volume":"164","author":"Ekvall","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/(SICI)1096-8628(19980123)75:3<265::AID-AJMG8>3.0.CO;2-P","article-title":"Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome","volume":"75","author":"Bahuau","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"2290","DOI":"10.1002\/ajmg.a.35496","article-title":"Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family","volume":"158","author":"Pasmant","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1002\/ajmg.a.30813","article-title":"Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient","volume":"136","author":"Bertola","year":"2005","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1002\/ajmg.a.32837","article-title":"Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome","volume":"149","author":"Thiel","year":"2009","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1002\/ajmg.a.33996","article-title":"Lethal presentation of neurofibromatosis and Noonan syndrome","volume":"155","author":"Prada","year":"2011","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1038\/ng.3629","article-title":"Decoding germline de novo point mutations","volume":"48","author":"Goriely","year":"2016","journal-title":"Nat. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1007\/s004390050287","article-title":"Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients","volume":"98","author":"Gaona","year":"1996","journal-title":"Hum. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.ajhg.2011.12.017","article-title":"Paternal age effect mutations and selfish spermatogonial selection: Causes and consequences for human disease","volume":"90","author":"Goriely","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1101\/gr.239186.118","article-title":"Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes","volume":"28","author":"Maher","year":"2018","journal-title":"Genome Res."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1002\/ajmg.a.34413","article-title":"The importance of advanced parental age in the origin of neurofibromatosis type 1","volume":"158","author":"Snajderova","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1002\/mgg3.222","article-title":"The effect of parental age on the presence of de novo mutations\u2014Lessons from neurofibromatosis type I","volume":"4","author":"Dubov","year":"2016","journal-title":"Mol. Genet. Genomic Med."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/10\/9\/633\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:13:02Z","timestamp":1760188382000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/10\/9\/633"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,22]]},"references-count":42,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2019,9]]}},"alternative-id":["genes10090633"],"URL":"https:\/\/doi.org\/10.3390\/genes10090633","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,22]]}}}