Article
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
American journal of medical genetics. Part A - 1 Mar 2006
Neumann Luitgard M, El Ghouzzi Vincent, Paupe Vincent, Weber Hans-Peter, Fastnacht Elisabeth, Leenen Andreas, Lyding Sigrid, Klusmann Anne, Mayatepek Ertan, Pelz Jörg, Cormier-Daire Valerie
Abstract excerpt
Dyggve-Melchior-Clausen syndrome (DMC) (MIM 223800) and Smith-McCort dysplasia (SMC) (MIM 607326) are rare allelic autosomal recessive spondylo-epi-metaphyseal dysplasias (SEMDs) characterized by similar skeletal manifestations. Both phenotypes have been mapped to chromosome 18q21.1 and mutations in the DYM (dymeclin) gene were identified in 13 families with DMC and in two families with SMC. Most mutations...
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