Gene set enrichment analysis reveals a first somatic mutation in the catalytic domain of MAP2K1 in a melorheostosis patient

• Raphaël De Ridder,
• Eveline Boudin,
• Joe Ibrahim,
• M. Carola Zillikens,
• Bram C.J. van der Eerden,
• Wim Van Hul,
• Geert Mortier

Affiliations

Raphaël De Ridder

Center of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium; Corresponding author.

Eveline Boudin

Center of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium

Joe Ibrahim

Center of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium

M. Carola Zillikens

Division of Endocrinology, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands

Bram C.J. van der Eerden

Division of Endocrinology, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, Netherlands

Wim Van Hul

Center of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium

Geert Mortier

Center of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium