Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene

Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC) are similar, rare autosomal recessive osteochondrodysplasias. The radiographic features and cartilage histology in DMC and SMC are identical. However, patients with DMC exhibit significant developmental delay and mental retarda...

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Κύριοι συγγραφείς: Cohn, Daniel H., Ehtesham, Nadia, Krakow, Deborah, Unger, Sheila, Shanske, Alan, Reinker, Kent, Powell, Berkley R., Rimoin, David L.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: The American Society of Human Genetics 2003
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Articles
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC420018/
https://ncbi.nlm.nih.gov/pubmed/12491225
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