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Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases

机译：病例报告：SATB2相关综合征与临床线粒体疾病呈现重叠：两种情况的报告

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期刊名称 Frontiers in Genetics
作者
Yuri A. Zarate; Hilary J. Vernon; Katherine A. Bosanko; Praveen K. Ramani; Murat Gokden; Karin Writzl; Marija Meznaric; Tina Vipotnik Vesnaver; Raghu Ramakrishnaiah; Damjan Osredkar;
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年(卷),期 2021(-1),-1
年度 2021
页码 -1
总页数 6
原文格式 PDF
正文语种
中图分类遗传学;
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1. The Clinical Overlap between the Corticobasal Degeneration Syndrome and Other Diseases of the Frontotemporal Spectrum: Three Case Reports [J] . AlbertoRaggi, AlessandraMarcone, SandroIannaccone, Behavioural neurology . 2007,第3期

机译：皮质基底变性综合征与额颞谱其他疾病之间的临床重叠：三例报告
2. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. [J] . Kohlhase J, Schubert L, Liebers M, Journal of Medical Genetics . 2003,第7期

机译：20号染色体上SALL4位点的突变会导致一系列临床重叠的表型，包括Okihiro综合征，Holt-Oram综合征，顶肾肾综合征以及以前报道为沙利度胺胚胎病的患者。
3. Mitochondrial DNA deletion and duplication in Kearns–Sayre Syndrome (KSS) with initial presentation as Pearson Marrow‐Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia [J] . Vanessa Sabella‐Jiménez, Carlos Otero‐Herrera, Carlos Silvera‐Redondo, Molecular Genetics & Genomic Medicine . 2020,第11期

机译：线粒体DNA删除和复制kearns-sayre综合征（kss），初步介绍为Pearson Marrow-pancreas综合征（PMP）：哥伦比亚巴兰基亚的两种病例报告
4. Establish Reporting Format of Gene Related Rare-Diseases by Exome Sequencing in the Clinical Medical Laboratory [C] . Cheng-Mao Ho, Hsi-Yuan Huang, Chin-An Yang, IEEE International Conference on Bioinformatics and Bioengineering . 2016

机译：在临床医学实验室中通过外显子组测序建立与基因有关的罕见病报告格式
5. Epidemiological Investigation of a Non-Reportable Endemic Disease: Porcine Reproductive and Respiratory Syndrome (PRRS) in the US [D] . Valdes-Donoso, Pablo. 2017

机译：不可报告的地方病的流行病学调查：美国的猪繁殖与呼吸综合症（PRRS）
6. The Clinical Overlap between the Corticobasal Degeneration Syndrome and Other Diseases of the Frontotemporal Spectrum: Three Case Reports [O] . Alberto Raggi, Alessandra Marcone, Sandro Iannaccone, 2007

机译：皮质基底退化综合征与额颞谱其他疾病之间的临床重叠：三例报告
7. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy [O] . Kohlhase, J, Schubert, L, Liebers, M, 2003

机译：20号染色体上SALL4基因座的突变导致一系列临床重叠的表型，包括Okihiro综合征，Holt-Oram综合征，顶肾肾综合征和以前报道为沙利度胺胚胎病的患者

Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases

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