Add to ORKGDyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder. It is a spondyloepimetaphyseal dysplasia associated with mental retardation. Clinical manifestations include coarse facies, microcephaly, short trunk dwarfism, and mental retardation. Mutations in Dymeclin gene (DYM), mapped to chromosome 18q21.1, is responsible for DMC. We report here the observation of a consanguineous Moroccan patient having DMC syndrome. The molecular studies showed a previously reported homozygous mutation at c.1878delA of DYM gene. We discuss this recurrent mutation in Moroccan patients with DMC syndrome with a review
Abstract Background Dysequilibrium syndrome is a genetically heterogeneous condition that combines a...
Mohr-Tranebjaerg syndrome is a genetic rare disease. Only 44 cases have been described in 15 familie...
International audienceSpondyloepimetaphyseal dysplasias (SEMD) represent a heterogeneous group of co...
Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder. It is a spondyloepime...
International audienceDyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition cha...
International audienceDyggve-Melchior-Clausen (DMC) is a rare autosomal-recessive disorder character...
International audienceDyggve-Melchior-Clausen syndrome (DMC) is a rare autosomal-recessive disorder,...
International audienceDyggve-Melchior-Clausen syndrome (DMC) (MIM 223800) and Smith-McCort dysplasia...
Le syndrome de Dyggve-Melchior-Clausen est une maladie congénitale rare, décrite pour la première fo...
(1) Background: Dyggve-Melchior-Clausen Syndrome is a skeletal dysplasia caused by a defect in the D...
A twelve-year-old patient with a previous clinical diagnosis of spondylocostal skeletal dysplasia an...
Dyggve Melchior Clausen (DMC) syndrome is an autosomal recessive skeletal dysplasia caused by mutati...
Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short li...
Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC) are similar, rare autosomal...
International audienceSmith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epi-metaph...
Abstract Background Dysequilibrium syndrome is a genetically heterogeneous condition that combines a...
Mohr-Tranebjaerg syndrome is a genetic rare disease. Only 44 cases have been described in 15 familie...
International audienceSpondyloepimetaphyseal dysplasias (SEMD) represent a heterogeneous group of co...
Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder. It is a spondyloepime...
International audienceDyggve-Melchior-Clausen syndrome (DMC) is an autosomal recessive condition cha...
International audienceDyggve-Melchior-Clausen (DMC) is a rare autosomal-recessive disorder character...
International audienceDyggve-Melchior-Clausen syndrome (DMC) is a rare autosomal-recessive disorder,...
International audienceDyggve-Melchior-Clausen syndrome (DMC) (MIM 223800) and Smith-McCort dysplasia...
Le syndrome de Dyggve-Melchior-Clausen est une maladie congénitale rare, décrite pour la première fo...
(1) Background: Dyggve-Melchior-Clausen Syndrome is a skeletal dysplasia caused by a defect in the D...
A twelve-year-old patient with a previous clinical diagnosis of spondylocostal skeletal dysplasia an...
Dyggve Melchior Clausen (DMC) syndrome is an autosomal recessive skeletal dysplasia caused by mutati...
Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short li...
Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC) are similar, rare autosomal...
International audienceSmith-McCort dysplasia (SMC) is a rare autosomal recessive spondylo-epi-metaph...
Abstract Background Dysequilibrium syndrome is a genetically heterogeneous condition that combines a...
Mohr-Tranebjaerg syndrome is a genetic rare disease. Only 44 cases have been described in 15 familie...
International audienceSpondyloepimetaphyseal dysplasias (SEMD) represent a heterogeneous group of co...