Associated Papers
Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.
Akalın A et al.
American Journal of Medical Genetics. Part A, 2024
A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.
Bakar A et al.
Genes, 2023
Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.
Obara K et al.
Molecular Syndromology, 2022
An association study between the dymeclin gene and schizophrenia in the Japanese population.
Yazaki S et al.
Journal of Human Genetics, 2010
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
Dimitrov A et al.
Human Molecular Genetics, 2009
Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene.
Santos HG et al.
Clinical Dysmorphology, 2009
[Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease].
Rodríguez Rodríguez CM et al.
Neurologia (barcelona, Spain), 2007
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain.
Pogue R et al.
American Journal of Medical Genetics. Part A, 2005
Recent advances in Dyggve-Melchior-Clausen syndrome.
Paupe V et al.
Molecular Genetics and Metabolism, 0
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