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2004
Mark 1024C > T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family
Lower, KM ; Solders, G ; Bondeson, ML ; Nelson, J ; Brun, Arne ^LU ; Crawford, J ; Malm, G ; Borjeson, M ; Turner, G and Partington, M , et al. (2004) In European Journal of Human Genetics 12(10). p.787-789
- Contribution to journal › Letter