Article
Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.
American journal of medical genetics. Part A - 1 Mar 2014
Tran Mau-Them Frédéric, Boualam Aurélia, Barat-Houari Mouna, Jeandel Claire, Cottalorda Jérôme, Cormier-Daire Valérie, Fabre Aurélie, Dumont Bruno, Lefort Geneviève, Baujat Geneviève, Le Merrer Martine, Jorgensen Christian, Touitou Isabelle, Geneviève David
Abstract excerpt
Dysspondyloenchondromatosis is a rare form of generalized enchondromatosis associated with spinal involvement. This skeletal dysplasia is characterized by multiple enchondromas present in vertebrae as well as in metaphyseal and diaphyseal parts of the long tubular bones, post-natal short stature, and early development of kyphoscoliosis. A novel heterozygous missense mutation in COL2A1 was recently identified in a...
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