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
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.
Varshney K et al.
Journal of Medical Genetics, 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
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