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Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13

1 Apr 2000

Abstract excerpt

Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphyses of the long bones associated with cranial hyperostosis. The main clinical features are severe pain in the legs, muscular weakness, and a waddling gait. The...

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PMID: 10745041
DOI: 10.1136/jmg.37.4.245

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Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13PMID 10745041Read ↗

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