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
A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
Abdullah et al.
Molecular Biology Reports, 2020
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
Gaboon NEA et al.
Frontiers in Pediatrics, 2020
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