Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia 30 Years of NF-κB: A Blossoming of Relevance to Human Pathobiology.Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

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P2860

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

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http://www.wikidata.org/entity/Q52949572

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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name

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

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Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

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label

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

@en

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

@nl

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Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

@en

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

@nl

P1476

Frontometaphyseal dysplasia and keloid formation without FLNA mutations

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P2093

Annekatrien van de Kar

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

Chantal M A M van der Horst

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

Emma M Wade

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

Erin Carter

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

Hanneke Basart

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Lesley Adès

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

Louise C Wilson

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Raoul C Hennekam

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Saskia M Maas

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P2860

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Filamin A: phenotypic diversity.

Keloids in Rubinstein-Taybi syndrome: a clinical study.

Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia

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1215-1222

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scholarly article

P356

10.1002/AJMG.A.37044

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English

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167

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Tae-Joon Cho

Stephen Robertson

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2015-04-21T00:00:00Z

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P698

25899317

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Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

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P2860

P2860

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

description

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698