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 Li Ming Ong, Julian L. Goggi, Thomas Scerri, Gabrielle R. Wilson, Chernis Guai Mun Low, Arnette Shi Wei Wong, Dominic Grussu, Alexander P. A. Stegmann, Michel van Geel, Renske Janssen, David J. Amor, Melanie Bahlo, Norris R. Dunn, Thomas J. Carney, Paul J. Lockhart, Barry Coull, Maurice van Steensel

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    Medicine & Life Sciences