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Journal of Medical Genetics logoLink to Journal of Medical Genetics
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. 2004 Oct;41(10):778–783. doi: 10.1136/jmg.2004.020370

A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome

D Vallee, E Chevrier, G Graham, M Lazzaro, P Lavigne, A Hunter, D Picketts
PMCID: PMC1735599  PMID: 15466013

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