{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T22:46:47Z","timestamp":1793314007719,"version":"4.5.0"},"reference-count":47,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,6,25]],"date-time":"2013-06-25T00:00:00Z","timestamp":1372118400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:p>\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations are the underlying cause of neurofibromatosis type 1 (\n                    <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    ), a neuro\u2010cardio\u2010facio\u2010cutaneous syndrome (\n                    <jats:styled-content style=\"fixed-case\">NCFC<\/jats:styled-content>\n                    ). Because of the clinical overlap between\n                    <jats:styled-content style=\"fixed-case\">NCFCs<\/jats:styled-content>\n                    , genetic analysis of\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    <\/jats:italic>\n                    is necessary to confirm a clinical diagnosis\n                    <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    . This report describes the clinical and genetic findings of 18\u2009years of\n                    <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    molecular diagnostics in the Netherlands. A pathogenic mutation was found in 59.3% (1178\/1985) of the index patients, mostly\n                    <jats:italic>de novo<\/jats:italic>\n                    (73.8%). The majority of the index patients (64.3%) fulfilled the National Institute of Health\n                    <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    criteria, a pathogenic mutation was found in 80.9% of these patients. Seventy\u2010four percent of the index patients with an\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    <\/jats:italic>\n                    pathogenic mutation and not fulfilling the\n                    <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    criteria is &lt;12\u2009years, in agreement with the fact that some\n                    <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    symptoms appear after puberty. Genotype\u2013phenotype correlations were studied for 527 index patients.\n                    <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    patients with a type 1 microdeletion have a sixfold higher risk of special education\n                    <jats:italic>vs<\/jats:italic>\n                    <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    patients with an intragenic mutation. No evidently milder\n                    <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    phenotype for patients with a missense mutation was observed. Forty\u2010six prenatal analyses were performed in 28 (2.4%) families, of which 29 (63%) showed heterozygosity for the familial pathogenic mutation. This indicates that there is a need for prenatal\n                    <jats:styled-content style=\"fixed-case\">NF1<\/jats:styled-content>\n                    testing.\n                  <\/jats:p>","DOI":"10.1111\/cge.12187","type":"journal-article","created":{"date-parts":[[2013,5,8]],"date-time":"2013-05-08T14:17:32Z","timestamp":1368022652000},"page":"318-327","source":"Crossref","is-referenced-by-count":85,"title":["A clinical and genetic overview of 18\u2009years neurofibromatosis type 1 molecular diagnostics in the Netherlands"],"prefix":"10.1111","volume":"85","author":[{"given":"R.","family":"van Minkelen","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"van Bever","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.N.R.","family":"Kromosoeto","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.J.","family":"Withagen\u2010Hermans","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Nieuwlaat","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.J.J.","family":"Halley","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.M.W.","family":"van den Ouweland","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2009.160069"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2009.04.001"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990326)89:1<1::AID-AJMG3>3.0.CO;2-8"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.141.1.71"},{"key":"e_1_2_6_6_1","volume-title":"Neurofibromatosis 1: a clinical and genetical overview","author":"Huson SM","year":"1994"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181bf15e3"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2006.01.005"},{"issue":"5","key":"e_1_2_6_9_1","first-page":"575","article-title":"Neurofibromatosis. 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