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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 2003 Apr;40(4):e50. doi: 10.1136/jmg.40.4.e50

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome

A Baumstark, K Lower, A Sinkus, I Andriuskeviciute, L Jurkeniene, J Gecz, W Just
PMCID: PMC1735415  PMID: 12676923

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