Christopher Stewart, Jaskaran Singh Bhangu, Mahmoud Husseiny Awad, Gwyn Samuel Williams
{"title":"NMNAT1 常染色体隐性遗传病:黄斑瘢痕的罕见病因。","authors":"Christopher Stewart, Jaskaran Singh Bhangu, Mahmoud Husseiny Awad, Gwyn Samuel Williams","doi":"10.1136/bcr-2024-261677","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"17 11","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2024-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"NMNAT1 autosomal recessive disorder: a rare cause of macular scarring.\",\"authors\":\"Christopher Stewart, Jaskaran Singh Bhangu, Mahmoud Husseiny Awad, Gwyn Samuel Williams\",\"doi\":\"10.1136/bcr-2024-261677\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":9080,\"journal\":{\"name\":\"BMJ Case Reports\",\"volume\":\"17 11\",\"pages\":\"\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-11-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BMJ Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1136/bcr-2024-261677\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMJ Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/bcr-2024-261677","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
期刊介绍:
BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.