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

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

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年學術文章

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2016年學術文章

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2016年學術文章

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name

Moyamoya disease and artery to ...... ient with an elastin mutation.

@en

Moyamoya disease and artery to ...... ient with an elastin mutation.

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type

Item

label

Moyamoya disease and artery to ...... ient with an elastin mutation.

@en

Moyamoya disease and artery to ...... ient with an elastin mutation.

@nl

prefLabel

Moyamoya disease and artery to ...... ient with an elastin mutation.

@en

Moyamoya disease and artery to ...... ient with an elastin mutation.

@nl

P1476

Moyamoya disease and artery to ...... ient with an elastin mutation.

@en

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Ayako Shigeta

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Hajime Yokota

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Hiroko Morisaki

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Jiro Terada

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Kenji Tsushima

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Koichiro Tatsumi

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Nobuhiro Tanabe

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Seiichiro Sakao

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Takayuki Morisaki

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Tsukasa Ishiwata

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P2860

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Peripheral pulmonary artery stenosis as a cause of pulmonary hypertension in adults

Discrete contributions of elastic fiber components to arterial development and mechanical compliance.

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.

Williams-Beuren syndrome.

Congenital cutis laxa with a dominant inheritance and early onset emphysema.

Clinical and Angiographic Features of Patients with Moyamoya Disease and the p.R4810K Heterozygous Variant.

Isolated peripheral pulmonary artery stenoses in the adult.

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1924-1927

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scholarly article

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10.1002/AJMG.A.37662

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English

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170

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2016-04-15T00:00:00Z

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27080061

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