信州大学 · 遺伝子医療研究センター · 助教

研究关键词danlos syndrome・ehlers-danlos syndrome・frameshift mutation・vascular ehlers-danlos・variant in・next-generation sequencing

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• A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations.
• A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
• Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers-Danlos Syndrome Using Induced Pluripotent Stem Cells
• Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization

• 包括的アプローチによる血管型エーラス・ダンロス症候群の分子遺伝学的発症機序の解明
• エーラス・ダンロス症候群の分子遺伝学的発症機序の包括的解明

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