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
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
A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.
Seven M et al.
Clinical Dysmorphology, 2014
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
Khalifa O et al.
European Journal of Pediatrics, 2011
[Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease].
Rodríguez Rodríguez CM et al.
Neurologia (barcelona, Spain), 2007
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.
El Ghouzzi V et al.
Human Molecular Genetics, 2003
Recent advances in Dyggve-Melchior-Clausen syndrome.
Paupe V et al.
Molecular Genetics and Metabolism, 0
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