Associated Papers
Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.
Reyes-Silva C et al.
Genes, 2025
40428312 (PubMed )
Supplement: genes-16-00490-s001.zip › genes-3576202-supplementary.xlsx › Table_S2
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
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
Khalifa O et al.
European Journal of Pediatrics, 2011
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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