Archives of disease in childhood, 2009-01, Vol.94 (1), p.69-69
2009
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Details
- Autor(en) / Beteiligte
- Titel
- Lateral deviation of toes requires lateral thinking
- Ist Teil von
- Archives of disease in childhood, 2009-01, Vol.94 (1), p.69-69
- Ort / Verlag
- London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
- Erscheinungsjahr
- 2009
- Quelle
- BMJ Journals Archiv - DFG Nationallizenzen
- Beschreibungen/Notizen
- Genetic analysis of DNA obtained from a buccal sample revealed a heterozygous c.617G>A (p.Arg206His) mutation in the ACVR1 gene, reported as causative in most classical cases of FOP. 1 FOP is a rare (prevalence 1 in 2 million), disabling condition characterised by congenital malformations of the great toes and progressive heterotopic ossification, manifesting as rapidly developing soft tissue swellings that appear on the head, neck and upper back.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0003-9888eISSN: 1468-2044DOI: 10.1136/adc.2008.149658Titel-ID: cdi_proquest_miscellaneous_66756019
- Format
- –
- Schlagworte
- Abnormalities, Activin Receptors, Type I - genetics, Biological and medical sciences, Biopsy, Care and treatment, Case studies, Diagnosis, Disease Progression, Female, Foot, Foot deformities, General aspects, Hallux Valgus - etiology, Humans, Infant, Magnetic Resonance Imaging, Medical sciences, Miscellaneous, Mutation - genetics, Myositis Ossificans - complications, Myositis Ossificans - diagnosis, Myositis Ossificans - genetics, Prevention and actions, Public health. Hygiene, Public health. Hygiene-occupational medicine