Progressive extreme heterotopic calcification

scientific article published on 17 May 2013

Progressive extreme heterotopic calcification is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/AJMG.A.35944
P698PubMed publication ID23686761

P50authorAlfredo BruscoQ40220715
Claudio DefilippiQ57203337
Giovanni Battista FerreroQ78432926
Marco TartagliaQ30170252
Margherita Cirillo SilengoQ30503880
P2093author name stringElisabetta Flex
Elga Belligni
Elisa Biamino
Raoul C Hennekam
P2860cites workInfantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literatureQ34216367
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcificationQ34217171
Fibrodysplasia ossificans progressiva: clinical and genetic aspectsQ35660697
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Q35671719
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosisQ35925637
Inherited human diseases of heterotopic bone formationQ36552107
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.Q40482177
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.Q51057793
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosisQ24302045
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressivaQ24321505
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossificationQ24654579
Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL)Q28142507
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosisQ28260847
Mutations in the Gs alpha gene causing hormone resistanceQ28278301
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1Q30373949
Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spineQ33906034
P433issue7
P407language of work or nameEnglishQ1860
P304page(s)1706-1713
P577publication date2013-05-17
P1433published inAmerican Journal of Medical GeneticsQ4744254
P1476titleProgressive extreme heterotopic calcification
P478volume161A

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Q55078799Energy Dispersive X-ray (EDX) microanalysis: A powerful tool in biomedical research and diagnosis.cites workP2860

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