{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:07:33Z","timestamp":1792152453777,"version":"4.4.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Genome Canada, the Canadian Institutes of Health Research (CIHR)"},{"DOI":"10.13039\/501100000092","name":"Ontario Genomics Institute","doi-asserted-by":"crossref","award":["OGI-049"],"award-info":[{"award-number":["OGI-049"]}],"id":[{"id":"10.13039\/501100000092","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Genome Quebec and Genome British Columbia"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of connective tissue that begins during the first decade of life. Our patient presented with intrauterine growth retardation, respiratory distress, neonatal onset soft tissue masses, bilateral hallux valgus, and congenital anomalies of the thyroid and uterus. She was initially diagnosed with atypical infantile myofibromatosis based on clinical and pathological findings. She underwent whole\u2010exome sequencing (WES) as part of the FORGE study to identify the gene for infantile myofibromatosis; however a de novo dominant mutation in <jats:italic>ACVR1<\/jats:italic> (NM_001105.4:c.617G&gt;A) revised the diagnosis to FOP. This patient highlights the utility of WES as an early diagnostic tool in the investigation of patients with unusual presentations of rare diseases, thereby providing clinicians with accurate molecular diagnoses and the opportunity to tailor clinical management to improve patient care. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36969","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:56:57Z","timestamp":1429675017000},"page":"1337-1341","source":"Crossref","is-referenced-by-count":7,"title":["Atypical fibrodysplasia ossificans progressiva diagnosed by whole\u2010exome sequencing"],"prefix":"10.1002","volume":"167","author":[{"given":"Hao","family":"Liu","sequence":"first","affiliation":[{"name":"Faculty of Medicine University of Ottawa Ottawa ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah L","family":"Sawyer","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa ON Canada"},{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Gos","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Grynspan","sequence":"additional","affiliation":[{"name":"Department of Pathology Children's Hospital of Eastern Ontario Ottawa ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kheirie","family":"Issa","sequence":"additional","affiliation":[{"name":"Division of General Pediatrics Children's Hospital of Eastern Ontario Ottawa ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raveena","family":"Ramphal","sequence":"additional","affiliation":[{"name":"Division of Hematology\/Oncology Children's Hospital of Eastern Ontario Ottawa ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Rotaru","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging Children's Hospital of Eastern Ontario Ottawa ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FORGE Canada","family":"Consortium","sequence":"additional","affiliation":[{"name":"FORGE steering committee are listed in the acknowledgments"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Majewski","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University Montreal QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kym M","family":"Boycott","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa ON Canada"},{"name":"Department of Genetics Children's 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