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Familial ectopic ossification
1Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand.
Journal of Medical Genetics
|February 1, 1988
Abstract:
We report a family with dominantly inherited ectopic ossification. It is characterised by childhood onset of multifocal subcutaneous ossifications (primary osteoma cutis), which are of trivial clinical significance. One family member had extensive ectopic ossification involving one limb. We speculate that this may reflect somatic mutation having caused conversion to homozygosity.