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Journal of Medical Genetics Feb 1988We report a family with dominantly inherited ectopic ossification. It is characterised by childhood onset of multifocal subcutaneous ossifications (primary osteoma...
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.
Topics: Bone and Bones; Child; Choristoma; Female; Genes, Dominant; Homozygote; Humans; Infant; Male; Ossification, Heterotopic; Pedigree; Radiography; Skin Neoplasms
PubMed: 3126297
DOI: 10.1136/jmg.25.2.113 -
Journal of the Royal Society of Medicine Aug 1983
Topics: Adult; Child; Child, Preschool; Female; Humans; Male; Osteoma; Skin Neoplasms
PubMed: 6887189
DOI: No ID Found -
Canadian Medical Association Journal Jul 1967
Topics: Adult; Female; Humans; Ossification, Heterotopic; Osteoma; Skin Diseases
PubMed: 4961723
DOI: No ID Found -
Proceedings of the Royal Society of... Feb 1965
Topics: Bone Diseases, Metabolic; Calcinosis; Child; Foot Diseases; Hand Deformities; Humans; Hypoparathyroidism; Ossification, Heterotopic; Osteoma; Pathology; Pseudopseudohypoparathyroidism; Radiography; Skin Diseases; Skin Diseases, Genetic; Skin Neoplasms
PubMed: 14262017
DOI: No ID Found -
The Journal of Investigative Dermatology Oct 1963
Topics: Bone Diseases, Metabolic; Dermatology; Histocytochemistry; Humans; Ossification, Heterotopic; Osteoma; Skin Diseases, Genetic
PubMed: 14066597
DOI: 10.1038/jid.1963.96