Dina Gržan, Marjan Kulaš, Lea Jukić, Petra Sulić, M. Ćuk
{"title":"全基因组联合分析鉴定罕见的非编码致病变异- 1例儿童线粒体疾病病例报告","authors":"Dina Gržan, Marjan Kulaš, Lea Jukić, Petra Sulić, M. Ćuk","doi":"10.26800/lv-145-supl2-cr79","DOIUrl":null,"url":null,"abstract":"genome was done under the “CroSeq-GenomeBank” project. As a result, a rare non-coding causative variant in the NDUFS7 gene in the homozygous composition was identified, and she was diagnosed with MC1DN3. This autosomal recessive disease causes dysfunction of energy production in the mitochondria with a heterogenous and unpredictable clinical course with symptomatic treatment. CONCLUSION: With the evolution of diagnostic methods","PeriodicalId":18134,"journal":{"name":"Lijecnicki vjesnik","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease\",\"authors\":\"Dina Gržan, Marjan Kulaš, Lea Jukić, Petra Sulić, M. Ćuk\",\"doi\":\"10.26800/lv-145-supl2-cr79\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"genome was done under the “CroSeq-GenomeBank” project. As a result, a rare non-coding causative variant in the NDUFS7 gene in the homozygous composition was identified, and she was diagnosed with MC1DN3. This autosomal recessive disease causes dysfunction of energy production in the mitochondria with a heterogenous and unpredictable clinical course with symptomatic treatment. CONCLUSION: With the evolution of diagnostic methods\",\"PeriodicalId\":18134,\"journal\":{\"name\":\"Lijecnicki vjesnik\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-04-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Lijecnicki vjesnik\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.26800/lv-145-supl2-cr79\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Lijecnicki vjesnik","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.26800/lv-145-supl2-cr79","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease
genome was done under the “CroSeq-GenomeBank” project. As a result, a rare non-coding causative variant in the NDUFS7 gene in the homozygous composition was identified, and she was diagnosed with MC1DN3. This autosomal recessive disease causes dysfunction of energy production in the mitochondria with a heterogenous and unpredictable clinical course with symptomatic treatment. CONCLUSION: With the evolution of diagnostic methods
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