Literature DB >> 11310999

Bowen-Conradi syndrome in an Indian infant: first non Hutterite case.

A Gupta, S R Phadke.   

Abstract

An Indian male infant with the lethal Bowen Conradi syndrome is described. This is the first case in the literature who is not from the Hutterite population.

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Year:  2001        PMID： 11310999     DOI： 10.1097/00019605-200104000-00016

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  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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