Kawasaki University of Medical Welfare · Graduate School of Health and Welfare / Faculty of Health and Welfare · 特任教授

Research keywordsAarskog・Adams・Oliver・先天異常・臨床遺伝学・遺伝カウンセリング

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• Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene.
• Microdeletion of 19p13.3 in a Girl With Peutz-Jeghers Syndrome, Intellectual Disability, Hypotonia, and Distinctive Features
• Ellis-van Creveld症候群
• Möbius症候群

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