Fibrodysplasia ossificans progressiva: Clinical and genetic aspects

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Pignolo, Robert J ^a,b   Shore, Eileen M ^b   Kaplan, Frederick S ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Activin A receptor type I Activin like kinase 2 (ACVR1 ALK2); fibrodysplasia ossificans progressiva; heterotopic ossification; myositis ossificans; progressive osseous heteroplasia; toe malformation; trauma

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; BONE MORPHOGENETIC PROTEIN RECEPTOR 1; ACTIVIN RECEPTOR 1; ACVR1 PROTEIN, HUMAN;

APONEUROSIS; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL EVALUATION; CLINICAL FEATURE; CORTICOSTEROID THERAPY; DESMOID TUMOR; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; EDEMA; FALLING; FASCIA; FATIGUE; FIBROMATOSIS; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HALLUX VALGUS; HEARING LOSS; HETEROTOPIC OSSIFICATION; HUMAN; IMMOBILIZATION; INFECTION PREVENTION; LIFESPAN; LIGAMENT; LIMB SWELLING; LYMPHEDEMA; MISSENSE MUTATION; MUSCLE STRETCHING; OSSIFYING MYOSITIS; OSTEOSARCOMA; PERSONALIZED MEDICINE; PREVALENCE; PROGNOSIS; REVIEW; SKELETAL MUSCLE; SOFT TISSUE INJURY; SOFT TISSUE SARCOMA; TENDON; TOE MALFORMATION; TREATMENT DURATION; VIRUS INFECTION; WALKING DIFFICULTY; WHEELCHAIR; CHILD; CONGENITAL MALFORMATION; GENETICS; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD; TOE;

ACTIVIN RECEPTORS, TYPE I; CHILD; CHILD, PRESCHOOL; GENETIC COUNSELING; GENETIC TESTING; HUMANS; MUTATION; MYOSITIS OSSIFICANS; OSSIFICATION, HETEROTOPIC; TOES;

EID: 82355182537     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-80     Document Type: Review

References (23)

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