Literature DB >> 7123536

[A newborn infant with the Bowen-Conradi syndrome; a fatal hereditary disorder].

F A Beemer, L J Gerards.   

Abstract

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Year:  1982        PMID： 7123536

Source DB:  PubMed          Journal:  Tijdschr Kindergeneeskd        ISSN： 0376-7442


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  1 in total

1.  Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.

Authors:  Joy Armistead; Sunita Khatkar; Britta Meyer; Brian L Mark; Nehal Patel; Gail Coghlan; Ryan E Lamont; Shuangbo Liu; Jill Wiechert; Peter A Cattini; Peter Koetter; Klaus Wrogemann; Cheryl R Greenberg; Karl-Dieter Entian; Teresa Zelinski; Barbara Triggs-Raine
Journal:  Am J Hum Genet       Date:  2009-05-21       Impact factor: 11.025
  1 in total

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