Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

de Vos IJHM, Tao EY, Ong SLM, Goggi JL, Scerri T, Wilson GR, Low CGM, Wong ASW, Grussu D, Stegmann APA, van Geel M, Janssen R, Amor DJ, Bahlo M, Dunn NR, Carney TJ, Lockhart PJ, Coull BJ, van Steensel MAM
Hum Mol Genet. 2018 Aug 15;27(16):2775-2788. doi: 10.1093/hmg/ddy168. PubMed Article

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