{"title":"与NF1 p.Met992del的框架内缺失相关的家族性卡萨姆-au- lae斑疹","authors":"Daisuke Nakato, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki","doi":"10.1111/cga.12506","DOIUrl":null,"url":null,"abstract":"Neurofibromatosis type 1 (NF1) and Legius syndrome (LS) are caused by pathogenic variants of the NF1 gene and the SPRED1 gene, respectively. Café-au-lait macules (CALMs) are an essential clinical feature of both disorders and appear by 3 months of age. The natural history of the two disorders is distinctive after puberty: cutaneous neurofibromas and nodular plexiform neurofibromas appear after","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 2","pages":"54-55"},"PeriodicalIF":1.3000,"publicationDate":"2023-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome\",\"authors\":\"Daisuke Nakato, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki\",\"doi\":\"10.1111/cga.12506\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Neurofibromatosis type 1 (NF1) and Legius syndrome (LS) are caused by pathogenic variants of the NF1 gene and the SPRED1 gene, respectively. Café-au-lait macules (CALMs) are an essential clinical feature of both disorders and appear by 3 months of age. The natural history of the two disorders is distinctive after puberty: cutaneous neurofibromas and nodular plexiform neurofibromas appear after\",\"PeriodicalId\":10626,\"journal\":{\"name\":\"Congenital Anomalies\",\"volume\":\"63 2\",\"pages\":\"54-55\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2023-01-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Congenital Anomalies\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/cga.12506\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Congenital Anomalies","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/cga.12506","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome
Neurofibromatosis type 1 (NF1) and Legius syndrome (LS) are caused by pathogenic variants of the NF1 gene and the SPRED1 gene, respectively. Café-au-lait macules (CALMs) are an essential clinical feature of both disorders and appear by 3 months of age. The natural history of the two disorders is distinctive after puberty: cutaneous neurofibromas and nodular plexiform neurofibromas appear after
期刊介绍：
Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.
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