Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1

Journal of Bone and Mineral Research

Volumn 27, Issue 3, 2012, Pages 729-737

  Whyte, Michael P ^a,b   Wenkert, Deborah ^a   Demertzis, Jennifer L ^b   Dicarlo, Edward F ^c   Westenberg, Erica ^b   Mumm, Steven ^a,b  

^a SHRINERS HOSPITAL FOR CHILDREN   (United States)

^b BARNES JEWISH HOSPITAL   (United States)

^c HOSPITAL FOR SPECIAL SURGERY   (United States)

Author keywords

BONE MORPHOGENETIC PROTEIN; FASCIITIS; HALLUX VALGUS; HETEROTOPIC BONE; IMMUNOSUPPRESSANTS; MYOSITIS; OSSIFICATION

Indexed keywords

ALENDRONIC ACID; AZATHIOPRINE; BISPHOSPHONIC ACID DERIVATIVE; BONE MORPHOGENETIC PROTEIN; IMMUNOSUPPRESSIVE AGENT; METHOTREXATE; METHYLPREDNISOLONE; MYCOPHENOLIC ACID 2 MORPHOLINOETHYL ESTER; PREDNISONE; PROTEIN ALK2; RECEPTOR PROTEIN; UNCLASSIFIED DRUG;

ACVR1 GENE; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL PROLIFERATION; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; DISEASE EXACERBATION; DRUG MEGADOSE; EPIGENETICS; FASCIITIS; FEMALE; FIBROBLAST; GENE; GENE ACTIVATION; HALLUX VALGUS; HETEROTOPIC OSSIFICATION; HETEROZYGOSITY; HUMAN; INFLAMMATORY CELL; MISSENSE MUTATION; ONSET AGE; OSSIFYING MYOSITIS; RARE DISEASE; SCAPULA; SWELLING; SYMPTOM; TREATMENT OUTCOME; VIRUS INFECTION;

ACTIVIN RECEPTORS, TYPE I; AGE OF ONSET; FEMALE; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; MYOSITIS OSSIFICANS; OSSIFICATION, HETEROTOPIC;

EID: 84857283030     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.1473     Document Type: Article

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