Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome

Bowen-Conradi syndrome (BCS) is an autosomal-recessive disorder characterized by severely impaired prenatal and postnatal growth, profound psychomotor retardation, and death in early childhood. Nearly all reported BCS cases have been among Hutterites, with an estimated birth prevalence of 1/355. We...

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Autors principals: Armistead, Joy, Khatkar, Sunita, Meyer, Britta, Mark, Brian L., Patel, Nehal, Coghlan, Gail, Lamont, Ryan E., Liu, Shuangbo, Wiechert, Jill, Cattini, Peter A., Koetter, Peter, Wrogemann, Klaus, Greenberg, Cheryl R., Entian, Karl-Dieter, Zelinski, Teresa, Triggs-Raine, Barbara
Format: Article
Idioma:English
Publicat: Elsevier 2009
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2694972/
https://ncbi.nlm.nih.gov/pubmed/19463982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.04.017
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https://ncbi.nlm.nih.gov/pmc/articles/PMC2694972/
https://ncbi.nlm.nih.gov/pubmed/19463982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.04.017

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