A Japanese family with popliteal pterygium syndrome.

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A Japanese family with popliteal pterygium syndrome.

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http://www.wikidata.org/entity/Q39036874

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2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

A Japanese family with popliteal pterygium syndrome.

@en

A Japanese family with popliteal pterygium syndrome.

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type

Item

label

A Japanese family with popliteal pterygium syndrome.

@en

A Japanese family with popliteal pterygium syndrome.

@nl

prefLabel

A Japanese family with popliteal pterygium syndrome.

@en

A Japanese family with popliteal pterygium syndrome.

@nl

P1476

A Japanese family with popliteal pterygium syndrome.

@en

P2093

Kenji Kusumoto

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Koh-Ichiro Yoshiura

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Motoki Katsube

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P2860

Popliteal pterygium syndrome.

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6

Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32

Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development

Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.

P304

50-52

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P31

scholarly article

case report

P356

10.3109/23320885.2015.1038347

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P433

3-4

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P478

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P577

2015-04-24T00:00:00Z

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P5875

276165090

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P698

27252970

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P932

4793797

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