Associated Papers
Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.
Reyes-Silva C et al.
Genes, 2025
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
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.
Obara K et al.
Molecular Syndromology, 2022
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review.
Elalaoui SC et al.
Indian Journal of Human Genetics, 2011
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
Khalifa O et al.
European Journal of Pediatrics, 2011
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
[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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