| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/AJMG.A.36969 |
| P698 | PubMed publication ID | 25899773 |
| P50 | author | Kym M Boycott | Q61638582 |
| Monika Gos | Q88431810 | ||
| P2093 | author name string | Hao Liu | |
| Gail Graham | |||
| Jacek Majewski | |||
| FORGE Canada Consortium | |||
| Matthew Bromwich | |||
| Sarah L Sawyer | |||
| Raveena Ramphal | |||
| Carmen Rotaru | |||
| David Grynspan | |||
| Kheirie Issa | |||
| P2860 | cites work | A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva | Q24321505 |
| Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva | Q33685088 | ||
| Successful treatment of life-threatening generalized infantile myofibromatosis using low-dose chemotherapy | Q35218231 | ||
| Fibrodysplasia ossificans progressiva: clinical and genetic aspects | Q35660697 | ||
| A recurrent PDGFRB mutation causes familial infantile myofibromatosis | Q36909279 | ||
| Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis | Q36909348 | ||
| Risk-adapted therapy for infantile myofibromatosis in children. | Q37950944 | ||
| Exome sequencing as a diagnostic tool for pediatric-onset ataxia | Q43054775 | ||
| Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva | Q44576102 | ||
| Mutations in TMEM231 cause Joubert syndrome in French Canadians | Q46903281 | ||
| The usefulness of whole-exome sequencing in routine clinical practice. | Q50657606 | ||
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | fibrodysplasia ossificans progressiva | Q1410831 |
| P304 | page(s) | 1337-1341 | |
| P577 | publication date | 2015-04-21 | |
| P1433 | published in | American Journal of Medical Genetics | Q4744254 |
| P1476 | title | Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing. | |
| P478 | volume | 167 |
| Q41040377 | A rare presentation: A case report of osseous metaplasia and mature bone formation in a follicular adenoma of the thyroid |
| Q35960743 | Characterization of Disease-Associated Mutations in Human Transmembrane Proteins |
| Q37351458 | DNM1L-related mitochondrial fission defect presenting as refractory epilepsy |
| Q47114501 | Fibrodysplasia ossificans progressiva: Basic understanding and experimental models |
| Q38655437 | NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment. |
| Q37316405 | Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care |
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