Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

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Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.FGFR-associated craniosynostosis syndromes and gastrointestinal defects.

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P2860

Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

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http://www.wikidata.org/entity/Q54484909

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2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

@zh-my

2012年学术文章

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2012年學術文章

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2012年學術文章

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2012年學術文章

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name

Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

@en

Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

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type

Item

label

Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

@en

Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

@nl

prefLabel

Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

@en

Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

@nl

P1476

Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

@en

P2093

Koichi Tanaka

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

Naohiro Suga

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

Noboru Takahashi

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

Takato Nakamoto

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

P2860

Pfeiffer syndrome

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis

Human tails and pseudotails

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome

Dominant erbliche Akrocephalosyndaktylie

Fibroblast growth factor receptor 2 and its role in caudal appendage and craniosynostosis.

Pfeiffer syndrome: a treatment evaluation.

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.

P304

2506-2510

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scholarly article

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10.1002/AJMG.A.35590

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English

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158A

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Hiroshi Koga

P577

2012-09-10T00:00:00Z

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P698

22965899

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Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

about

P2860

P2860

Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

description

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type

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P1433

P1476

P2093

P2860

P304

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P356

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P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698