{"title":"遗传学:COL25A1基因的隐性变异是先天性多关节畸形伴眼颅神经神经支配不良的新原因","authors":"Valérie Allamand","doi":"10.1051/myolog/202225011","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":181474,"journal":{"name":"Les Cahiers de Myologie","volume":"24 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Gènètique : Des variants récessifs du gène COL25A1 comme nouvelle cause d’arthrogrypose multiple congénitale avec dysinnervation des nerfs crâniens oculaires\",\"authors\":\"Valérie Allamand\",\"doi\":\"10.1051/myolog/202225011\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":181474,\"journal\":{\"name\":\"Les Cahiers de Myologie\",\"volume\":\"24 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Les Cahiers de Myologie\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1051/myolog/202225011\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Les Cahiers de Myologie","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1051/myolog/202225011","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Gènètique : Des variants récessifs du gène COL25A1 comme nouvelle cause d’arthrogrypose multiple congénitale avec dysinnervation des nerfs crâniens oculaires