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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. de Vos IJHM, et al. Hum Mol Genet. 2018 Aug 15;27(16):2775-2788. doi: 10.1093/hmg/ddy168. Hum Mol Genet. 2018. PMID: 29741626 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34004761
Neuroendocrinology and neurobiology of sebaceous glands.
Clayton RW, Langan EA, Ansell DM, de Vos IJHM, Göbel K, Schneider MR, Picardo M, Lim X, van Steensel MAM, Paus R. Clayton RW, et al. Among authors: de vos ijhm. Biol Rev Camb Philos Soc. 2020 Jun;95(3):592-624. doi: 10.1111/brv.12579. Epub 2020 Jan 22. Biol Rev Camb Philos Soc. 2020. PMID: 31970855 Review.