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A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

Eva Morava et al.

European journal of human genetics : EJHG 15 (6), 638-45 (Jun 2007)

info:pmid/17356545 | info:doi/10.1038/sj.ejhg.5201813

Posted by ommen to wopereis on Thu Mar 20 2008 at 08:57 UTC | info | related

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