A Japanese Family of Typical Loeys-Dietz Syndrome with a TGFBR2 Mutation
スポンサーリンク
概要
- 論文の詳細を見る
This report describes a Japanese family with vessel and craniofacial abnormalities. Although the clinical findings of the patients father fulfilled the diagnostic criteria for Marfan syndrome, arterial tortuosity, aneurysms, hypertelorism and a bifid uvula were noted in both the patient and his father. These findings were compatible with the clinical manifestations that were previously reported in Loeys-Dietz syndrome. A molecular genetic analysis demonstrated a heterozygous missense mutation of the transforming growth factor-beta receptor II gene in both the patient and his father, which thus caused Loeys-Dietz syndrome. This is the first Japanese family case report of typical Loeys-Dietz syndrome.
- 社団法人 日本内科学会の論文
著者
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Matsuzawa Yuji
Department of Internal Medicine, Sumitomo Hospital
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Hiraoka Hisatoyo
Department of Internal Medicine and Molecular Science, Graduate School of Medicine, Osaka University
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Matsuzawa Yuji
熊本大学 医学薬学研究部循環器病態学
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Togashi Yosuke
Department of Internal Medicine, Sumitomo Hospital
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Sakoda Hiroto
Department of Internal Medicine, Sumitomo Hospital
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Nishimura Akira
Department of Human Genetics, Yokohama City University Graduate School of Medicine
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Matsumoto Naomichi
Department of Human Genetics, Yokohama City University Graduate School of Medicine
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Hiraoka Hisatoyo
横浜市立大学附属市民総合医療センター 心臓血管センター
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Hiraoka Hisatoyo
Department Of Cardiology Sumitomo Hospital
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Matsuzawa Yuji
Department Of 2nd Internal Medicine Faculty Of Medicine Oaka University
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Matsumoto Naomichi
Department Of Cardiology Fukuoka University Hospital School Of Medicine
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Nishimura Akira
Department Of Applied Chemistry Faculty Of Engineering Osaka University
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Hiraoka Hisatoyo
Department of Internal Medicine, Sumitomo Hospital
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