A clinical and molecular genetic study of the skeletal dysplasia Dyggve Melchior Clausen Syndrome
Dyggve Melchior Clausen (DMC) syndrome is an autosomal recessive skeletal dysplasia caused by mutations in the Dymeclin (DYM ) gene on chromosome 18q12-21. Affected individuals have multiple bony abnormalities and mental retardation.;The aim of this work was to elucidate the function of the DYM gene...
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University of Leicester
2008
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.495494 |