Shinshu University · Department of Medicine / Faculty of Medicine · 特任教授

Research keywords遺伝カウンセリング・18トリソミー・染色体欠失症候群・染色体転座・網膜芽細胞腫・PMP22変異・遺伝性運動感覚ニューロパチー・常染色体優性小脳失調症・性腺異形成・凝固因子欠乏症

Research fieldsHuman genetics・Medical sociology・Surgical dentistry・Pediatrics・Society medicine・Embryonic/Neonatal medicine・Hygiene・Human pathology

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• 医療における遺伝学的検査・診断に関するガイドライン
• [Beckwith-Wiedemann syndrome].
• Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
• Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.

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