Mutation screening in Borjeson-Forssman-Lehmann syndrome: Identification of a novel, de novo PHF6 mutation in a female patient

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2006
Authors
Lower, Karen Marie
Crawford, Jo
Hennekam, R
van Esch, H
Megarbane, A
Lynch, SA
Turner, Gillian
Gecz, Jozef
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Crawford, J., Lower, K.M., Hennekam, R., van Esch, H., Megarbane, A., Lynch, S., et al. (2006). Mutation screening in Borjeson-Forssman-Lehmann syndrome: Identification of a novel, de novo PHF6 mutation in a female patient. Journal of Medical Genetics, 43(3) pp. 238-243.