Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation.

Ishiwata, Tsukasa; Tanabe, Nobuhiro; Shigeta, Ayako; Yokota, Hajime; Tsushima, Kenji; Terada, Jiro; Sakao, Seiichiro; Morisaki, Hiroko; Morisaki, Takayuki; Tatsumi, Koichiro

Ishiwata, Tsukasa; Tanabe, Nobuhiro; Shigeta, Ayako; Yokota, Hajime; Tsushima, Kenji; Terada, Jiro; Sakao, Seiichiro; Morisaki, Hiroko; Morisaki, Takayuki; Tatsumi, Koichiro.

Afiliação

Ishiwata T; Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Tanabe N; Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Shigeta A; Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Yokota H; Department of Radiology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Tsushima K; Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Terada J; Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Sakao S; Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Morisaki H; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.
Morisaki T; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.
Tatsumi K; Department of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.

Am J Med Genet A ; 170(7): 1924-7, 2016 07.

Article em En | MEDLINE | ID: mdl-27080061

Assuntos

Artérias/anormalidades; Constrição Patológica/genética; Elastina/genética; Instabilidade Articular/genética; Doença de Moyamoya/genética; Dermatopatias Genéticas/genética; Malformações Vasculares/genética; Adulto; Artérias/fisiopatologia; Constrição Patológica/fisiopatologia; Feminino; Humanos; Instabilidade Articular/fisiopatologia; Doença de Moyamoya/fisiopatologia; Mutação; Fenótipo; Dermatopatias Genéticas/fisiopatologia; Malformações Vasculares/fisiopatologia

Palavras-chave

artery tortuosity; cutis laxa; elastin; moyamoya disease; peripheral pulmonary artery stenosis; pulmonary hypertension

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artérias / Dermatopatias Genéticas / Elastina / Constrição Patológica / Malformações Vasculares / Instabilidade Articular / Doença de Moyamoya Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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