Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

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Flare-Up After Maxillofacial Surgery in a Patient With Fibrodysplasia Ossificans Progressiva: An [F]-NaF PET/CT Study and a Systematic Review

P2860

Q57152952-44A8A0AF-255C-4ECB-A651-1268370F1BF2

P2860

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

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http://www.wikidata.org/entity/Q36116661

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

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Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

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type

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label

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

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Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

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Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

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Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

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P1476

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva

@en

P2093

Alex N Bullock

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

Dimitra Micha

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

Eileen M Shore

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

Fred S Kaplan

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Genevieve Beaujat

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Gonzalo Sánchez-Duffhues

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J Coen Netelenbos

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James T Triffit

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

Maja di Rocco

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

Nathalie Bravenboer

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P2860

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva.

The FOP metamorphogene encodes a novel type I receptor that dysregulates BMP signaling.

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant

Fibrodysplasia ossificans progressiva: clinical and genetic aspects

Early diagnosis of fibrodysplasia ossificans progressiva

Inherited human diseases of heterotopic bone formation.

Fibrodysplasia ossificans progressiva (FOP): watch the great toes!

P2888

ejhg.2014.274

P31

scholarly article

P356

10.1038/EJHG.2014.274

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P433

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2015-01-21T00:00:00Z

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P5875

271509881

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P698

25604857

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P921

fibrodysplasia ossificans progressiva

P932

4592076

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

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

about

P2860

P2860

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.

description

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type

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P1433

P1476

P2093

P2860

P2888

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P2888

P31

P356

P433

P478

P50

P577

P5875

P698

P921

P932