{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T20:24:11Z","timestamp":1790627051340,"version":"4.1.0"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of \u223c1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and functions as a tumor suppressor. Haploinsufficiency of neurofibromin through mutation leads to an increased risk of developing benign and malignant tumors in affected individuals. Although NF1 has complete penetrance, it displays considerable inter- and intrafamilial variability in phenotypic expression which poses disease prediction and management problems. Some NF1 genotype\u2013phenotype correlations have been described. To evaluate the genetic component of variable expressivity in NF1, we examined the phenotypic correlations between affected relatives in 52 NF1 patients from 45 families.<\/jats:p>","DOI":"10.1055\/s-0037-1620239","type":"journal-article","created":{"date-parts":[[2018,2,22]],"date-time":"2018-02-22T23:57:07Z","timestamp":1519343827000},"page":"180-184","source":"Crossref","is-referenced-by-count":21,"title":["Phenotype\u2013Genotype Correlation in Children with Neurofibromatosis Type 1"],"prefix":"10.1055","volume":"49","author":[{"given":"Sandrine","family":"Vaessen","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Centre Regional de la Citadelle, Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia","family":"Bulk","sequence":"first","affiliation":[{"name":"Department of Genetics, Centre Hospitalier Universitaire, Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Harvengt","sequence":"first","affiliation":[{"name":"Department of Genetics, Centre Hospitalier Universitaire, Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Paul","family":"Misson","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Centre Regional de la Citadelle, Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Barrea","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Centre Regional de la Citadelle, Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2018,2,22]]},"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0037-1620239.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,5,10]],"date-time":"2018-05-10T22:31:24Z","timestamp":1525991484000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0037-1620239"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,22]]},"references-count":0,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2018,5,10]]},"published-print":{"date-parts":[[2018,6]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0037-1620239","relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,22]]}}}