{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:07:37Z","timestamp":1762542457192},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,10,13]],"date-time":"2015-10-13T00:00:00Z","timestamp":1444694400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81371903"],"award-info":[{"award-number":["81371903"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurofibromatosis 1 (<jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1) is a common autosomal dominant condition caused by mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1<\/jats:italic> gene. The appearance of multiple caf\u00e9\u2010au\u2010lait macules is an early sign of the condition, which often alert physicians to follow up and further examine the patient for the possibility of <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1. In order to determine the predictive value of multiple caf\u00e9\u2010au\u2010lait macules at early age for <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1 in Chinese patients, we recruited 19 children who shared the common sign of multiple caf\u00e9\u2010au\u2010lait macules from a general pediatric clinic in Shanghai. All the patients were clinically evaluated following the National Institutes of Health criteria for <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1 and molecular tested for sequence variants and copy number changes. Nine children met the clinical diagnostic criteria of <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1, and molecular tests confirmed all nine patients with pathogenic variants including two genomic deletions, two novel frame\u2010shift variants, four novel nonsense and a splicing variants. In addition, four children who did not meet the diagnostic criteria were also found to carry pathogenic <jats:italic><jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1<\/jats:italic> variants. Overall, 68.4% (13\/19) of children with caf\u00e9\u2010au\u2010lait macules and various other clinical presentations were molecularly confirmed with <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1. This study demonstrated that the majority of Chinese children with multiple caf\u00e9\u2010au\u2010lait macules who came to seek for medical attention had <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1. Molecular testing is necessary to be used as an adjunct and sometimes as the main tool for confirming and diagnosing children of <jats:styled-content style=\"fixed-case\">NF<\/jats:styled-content>1 at early age.<\/jats:p>","DOI":"10.1111\/1346-8138.13169","type":"journal-article","created":{"date-parts":[[2015,10,13]],"date-time":"2015-10-13T19:53:58Z","timestamp":1444766038000},"page":"537-542","source":"Crossref","is-referenced-by-count":16,"title":["Diagnostic value of multiple caf\u00e9\u2010au\u2010lait macules for neurofibromatosis 1 in Chinese children"],"prefix":"10.1111","volume":"43","author":[{"given":"Ruen","family":"Yao","sequence":"first","affiliation":[{"name":"Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lili","family":"Wang","sequence":"additional","affiliation":[{"name":"Xinhua Hospital Institute for Pediatric Research Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongguo","family":"Yu","sequence":"additional","affiliation":[{"name":"Xinhua Hospital Institute for Pediatric Research Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[{"name":"Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiping","family":"Shen","sequence":"additional","affiliation":[{"name":"Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine Shanghai China"},{"name":"Boston Children's Hospital Boston Massachusetts USA"},{"name":"Claritas Genomics Cambridge Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,10,13]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"172","article-title":"Statement: neurofibromatosis. Bethesda, Md, USA, July 13\u201015, 1987","volume":"1","author":"NIH; National Institutes of Health Consensus Development Conference","year":"1988","journal-title":"Neurofibromatosis"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.2.237"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1522-2683(20000201)21:3<541::AID-ELPS541>3.0.CO;2-L"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.21234"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20493"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050317"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.105.3.608"},{"key":"e_1_2_7_9_1","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1542\/peds.90.6.924","article-title":"Diagnostic outcome in children with multiple caf\u00e9 au lait spots","volume":"90","author":"Korf BR","year":"1992","journal-title":"Pediatrics"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1953.00240180067008"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.09.042"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2009.169"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2010.09.002"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101648"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22152"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.13169","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.13169","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T07:24:33Z","timestamp":1695540273000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.13169"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,13]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["10.1111\/1346-8138.13169"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.13169","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,13]]}}}