GeneticsHuman Molecular GeneticsPeer-reviewed
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype
Ivo J. H. M. de Vos, Evelyn Yaqiong Tao, Sheena L. M. Ong…·Maurice A. M. Van Steensel
The paper identifies a hypomorphic MMP14 mutation in Winchester syndrome and shows its catalytic activity determines disease severity using in vitro and zebrafish models.