An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome

May 2013 in “ International Journal of Molecular Medicine ”

Gabriel C. Dworschak, Markus Draaken, Alina C. Hilger, Mark Born, Heiko Reutter, Michael Ludwig

Studysummary This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

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