{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:20:26Z","timestamp":1740126026295,"version":"3.37.3"},"reference-count":8,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A few genotype\u2010phenotype correlations have been described in type 1 neurofibromatosis. One deletion, p.Met992del, seems to be responsible for a mild form of the condition, in which there is absence of externally visible neurofibromas. We report a mother and a son with this mutation.<\/jats:p>","DOI":"10.1111\/pde.13578","type":"journal-article","created":{"date-parts":[[2018,7,2]],"date-time":"2018-07-02T06:15:00Z","timestamp":1530512100000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genotype\u2010phenotype correlation in type 1 neurofibromatosis: <scp>pM<\/scp>et992del mutation and milder disease"],"prefix":"10.1111","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2194-8920","authenticated-orcid":false,"given":"Ana","family":"Batalla","sequence":"first","affiliation":[{"name":"Departments of Dermatology and Pediatrics Complejo Hospitalario Universitario de Pontevedra Pontevedra Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1lvaro","family":"Iglesias\u2010Puzas","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and Pediatrics Complejo Hospitalario Universitario de Pontevedra Pontevedra Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Freire\u2010Bruno","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and Pediatrics Complejo Hospitalario Universitario de Pontevedra Pontevedra Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Herrero\u2010Hermida","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and Pediatrics Complejo Hospitalario Universitario de Pontevedra Pontevedra Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ngeles","family":"Fl\u00f3rez","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and Pediatrics Complejo Hospitalario Universitario de Pontevedra Pontevedra Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,7]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/510781"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1766-y"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1620239"},{"key":"e_1_2_4_5_1","unstructured":"HGMD Gene Result(online). Available athttp:\/\/www.hgmd.cf.ac.uk\/ac\/gene.php?gene=NF1Accessed April 7 2018."},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22832"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.12.001"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1479-7364-6-12"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.243"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13578","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13578","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T06:12:20Z","timestamp":1695017540000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13578"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":8,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,9]]}},"alternative-id":["10.1111\/pde.13578"],"URL":"https:\/\/doi.org\/10.1111\/pde.13578","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"type":"print","value":"0736-8046"},{"type":"electronic","value":"1525-1470"}],"subject":[],"published":{"date-parts":[[2018,7]]},"assertion":[{"value":"2018-07-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}