A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review

Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder. It is a spondyloepimetaphyseal dysplasia associated with mental retardation. Clinical manifestations include coarse facies, microcephaly, short trunk dwarfism, and mental retardation. Mutations in Dymeclin gene (DYM), map...

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Detalles Bibliográficos
Autores principales: Elalaoui, Siham Chafai, Mariam, Tajir, Ilham, Ratbi, Yassamine, Doubaj, Abdelaziz, Sefiani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214327/
https://www.ncbi.nlm.nih.gov/pubmed/22090722
http://dx.doi.org/10.4103/0971-6866.86197

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214327/
https://www.ncbi.nlm.nih.gov/pubmed/22090722
http://dx.doi.org/10.4103/0971-6866.86197

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