Arterial tortuosity syndrome: 40 new families and literature review.

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Arterial tortuosity syndrome: 40 new families and literature review.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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2018年學術文章

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Arterial tortuosity syndrome: 40 new families and literature review.

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Arterial tortuosity syndrome: 40 new families and literature review.

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Arterial tortuosity syndrome: 40 new families and literature review.

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Arterial tortuosity syndrome: 40 new families and literature review.

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Arterial tortuosity syndrome: 40 new families and literature review.

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Arterial tortuosity syndrome: 40 new families and literature review.

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P1476

Arterial tortuosity syndrome: 40 new families and literature review.

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P2093

Alper Gezdirici

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Andrea Taylor

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Andy Willaert

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Anna Rajeb

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Anne De Paepe

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Anne Legrand

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Annekatrien Boel

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Aude Beyens

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Bart Loeys

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Bert Callewaert

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P2860

Glucose depletion in the airway surface liquid is essential for sterility of the airways

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Aneurysm syndromes caused by mutations in the TGF-beta receptor

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

A general framework for estimating the relative pathogenicity of human genetic variants

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13.

P2888

gim.2017.253

P31

scholarly article

P356

10.1038/GIM.2017.253

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P407

English

P50

Xavier Jeunemaitre

P577

2018-01-11T00:00:00Z

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P698

29323665

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