scholarly article | Q13442814 |
P356 | DOI | 10.1002/AJMG.A.35944 |
P698 | PubMed publication ID | 23686761 |
P50 | author | Alfredo Brusco | Q40220715 |
Claudio Defilippi | Q57203337 | ||
Giovanni Battista Ferrero | Q78432926 | ||
Marco Tartaglia | Q30170252 | ||
Margherita Cirillo Silengo | Q30503880 | ||
P2093 | author name string | Elisabetta Flex | |
Elga Belligni | |||
Elisa Biamino | |||
Raoul C Hennekam | |||
P2860 | cites work | Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature | Q34216367 |
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification | Q34217171 | ||
Fibrodysplasia ossificans progressiva: clinical and genetic aspects | Q35660697 | ||
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 | Q35671719 | ||
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis | Q35925637 | ||
Inherited human diseases of heterotopic bone formation | Q36552107 | ||
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 calcinosis | Q24302045 | ||
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva | Q24321505 | ||
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification | Q24654579 | ||
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 calcinosis | Q28260847 | ||
Mutations in the Gs alpha gene causing hormone resistance | Q28278301 | ||
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1 | Q30373949 | ||
Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine | Q33906034 | ||
P433 | issue | 7 | |
P407 | language of work or name | English | Q1860 |
P304 | page(s) | 1706-1713 | |
P577 | publication date | 2013-05-17 | |
P1433 | published in | American Journal of Medical Genetics | Q4744254 |
P1476 | title | Progressive extreme heterotopic calcification | |
P478 | volume | 161A |
Q55078799 | Energy Dispersive X-ray (EDX) microanalysis: A powerful tool in biomedical research and diagnosis. | cites work | P2860 |
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