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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Bibliographische Detailangaben
Hauptverfasser: Elalaoui, Siham Chafai, Mariam, Tajir, Ilham, Ratbi, Yassamine, Doubaj, Abdelaziz, Sefiani
Format: Artigo
Sprache:Inglês
Veröffentlicht: Medknow Publications 2011
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3214327/
https://ncbi.nlm.nih.gov/pubmed/22090722
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.86197
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