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

Research output: Contribution to journal › Article › peer-review

78 Scopus citations

Fingerprint

Dive into the research topics of 'A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia'. Together they form a unique fingerprint.

Medicine & Life Sciences