Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene
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概要
- 論文の詳細を見る
Ehlers-Danlos syndrome type IV (EDS type IV), vascular type, an autosomal dominant disorder caused by a mutation of the type III procollagen gene (COL3A1) is the most severe form of EDS and often presents with aortic hemorrhage or organ perforation. This report discusses a male patient with EDS type IV with dyspnea due to hemopneumothorax. He had thin skin and hypermobile joints and was clinically confirmed as having EDS type IV. The diagnosis was genetically confirmed by a mutation c.2528 G>A (p.Gly843Glu) in the COL3A1 gene. The position of the mutation has never been reported.
著者
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Usui Yutaka
Department Of Integrated Pulmonology Tokyo Medical And Dental University Tokyo Japan
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Hatamochi Atsushi
Department Of Dermatology Chiba University School Of Medicine
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Kodama Keiji
Department Of Medical Oncology Comprehensive Cancer Center Saitama Medical University
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Hagiwara Koichi
Department Of Respiratory Medicine Saitama Medical School
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Yamaguchi Takefumi
Department Of Respiratory Medicine Saitama Medical School
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Kanazawa Minoru
Department Of Internal Medicine School Of Medicine Keio University
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Nagata Makoto
Department Of Computer And Systems Engineering Kobe University
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Ohtake Akira
Department Of Pediatrics Faculty Of Medicine Saitama Medical University
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Hatamochi Atsushi
Department of Dermatology, School of Medicine, Dokkyo Medical University
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Soma Tomoyuki
Department of Respiratory Medicine, Saitama Medical University
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Kaga Akiko
Department of Respiratory Medicine, Saitama Medical University
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Sadakata Rinako
Department of Respiratory Medicine, Saitama Medical University
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