Progressive extreme heterotopic calcification

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Progressive extreme heterotopic calcification

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im Mai 2013 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 17 May 2013

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wetenschappelijk artikel

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наукова стаття, опублікована в травні 2013

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Progressive extreme heterotopic calcification

@en

Progressive extreme heterotopic calcification

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label

Progressive extreme heterotopic calcification

@en

Progressive extreme heterotopic calcification

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Progressive extreme heterotopic calcification

@en

Progressive extreme heterotopic calcification

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P1476

Progressive extreme heterotopic calcification

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P2093

Elga Belligni

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Elisa Biamino

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Elisabetta Flex

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Raoul C Hennekam

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P2860

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis

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

Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL)

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Mutations in the Gs alpha gene causing hormone resistance

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

Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

P304

1706-1713

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P31

scholarly article

P356

10.1002/AJMG.A.35944

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P407

English

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P478

161A

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Marco Tartaglia

Margherita Cirillo Silengo

Alfredo Brusco

C Defilippi

G B Ferrero

P577

2013-05-17T00:00:00Z

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P698

23686761

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