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

Eva Morava, Renate Zeevaert, Eckhard Korsch, Karin Huijben, Suzan Wopereis, Gert Matthijs, Kathelijn Keymolen, Dirk J. Lefeber, Linda De Meirleir, Ron A. Wevers

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76 Scopus citations

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