Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

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The role of genetics in pulmonary arterial hypertension.Interstitial lung disease in newborns.TBX4 is involved in the super-enhancer-driven transcriptional programs underlying features specific to lung fibroblasts.

P2860

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P2860

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

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http://www.wikidata.org/entity/Q53073932

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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

@wuu

2016年学术文章

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2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

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2016年學術文章

@yue

2016年學術文章

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name

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

@en

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

@nl

type

Item

label

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

@en

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

@nl

prefLabel

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

@en

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

@nl

P1476

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

@en

P2093

Cornelius F Boerkoel

http://www.w3.org/2001/XMLSchema#string

David Wensley

http://www.w3.org/2001/XMLSchema#string

Edwina Popek

http://www.w3.org/2001/XMLSchema#string

James R Lupski

http://www.w3.org/2001/XMLSchema#string

Paweł Stankiewicz

http://www.w3.org/2001/XMLSchema#string

Przemyslaw Szafranski

http://www.w3.org/2001/XMLSchema#string

Rosemarie Rupps

http://www.w3.org/2001/XMLSchema#string

Serge Grazioli

http://www.w3.org/2001/XMLSchema#string

Shalini N Jhangiani

http://www.w3.org/2001/XMLSchema#string

Zeynep H Coban-Akdemir

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P2860

Virtual cloning and physical mapping of a human T-box gene, TBX4

Mutations in the human TBX4 gene cause small patella syndrome.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

T-box genes in vertebrate development

Fgf10 is essential for limb and lung formation

Tbx2 controls lung growth by direct repression of the cell cycle inhibitor genes Cdkn1a and Cdkn1b

Wnt2/2b and beta-catenin signaling are necessary and sufficient to specify lung progenitors in the foregut

Loss of Tbx4 blocks hindlimb development and affects vascularization and fusion of the allantois

Fgf-10 is required for both limb and lung development and exhibits striking functional similarity to Drosophila branchless

T-box gene products are required for mesenchymal induction of epithelial branching in the embryonic mouse lung

P304

2440-2444

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scholarly article

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10.1002/AJMG.A.37822

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English

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http://www.w3.org/2001/XMLSchema#string

P478

170

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Anna Lee

P577

2016-07-04T00:00:00Z

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P698

27374786

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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

about

P2860

P2860

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

description

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

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P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698