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Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years
Annals of Human Genetics ( IF 1.9 ) Pub Date : 2019-08-16 , DOI: 10.1111/ahg.12345
Leila Cohen 1 , Analisa Manín 1 , Nancy Medina 1, 2 , Sergio Rodríguez-Quiroga 1, 2, 3 , Dolores González-Morón 1, 2, 4 , Julieta Rosales 1, 2 , Hernan Amartino 5 , Norma Specola 6 , Marta Córdoba 1, 2 , Marcelo Kauffman 1, 2, 7 , Patricia Vega 2
Affiliation  

Leukodystrophies and genetic leukoencephalopathies constitute a vast group of pathologies of the cerebral white matter. The large number of etiopathogenic genes and the frequent unspecificity on the clinical‐radiological presentation generate remarkable difficulties in the diagnosis approach. Despite recent and significant developments, molecular diagnostic yield is still less than 50%. Our objective was to develop and explore the usefulness of a new diagnostic procedure using standardized molecular diagnostic tools, and next‐generation sequencing techniques.

中文翻译:

脑白质营养不良和遗传性白质脑病队列中的阿根廷临床基因组学:前 9 年的诊断率

脑白质营养不良和遗传性白质脑病构成了大脑白质的一大类病理。大量的致病基因和临床放射学表现的频繁非特异性给诊断方法带来了显着的困难。尽管最近取得了重大进展,但分子诊断产率仍低于 50%。我们的目标是开发和探索使用标准化分子诊断工具和下一代测序技术的新诊断程序的有效性。
更新日期:2019-08-16
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