1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson–Forssman–Lehmann syndrome family
Karen M. Lower(Flinders University), Jozef Gécz(The University of Adelaide), M. W. Partington(University of King's College), Göran Solders(Karolinska University Hospital), Gillian Turner(Hunter Genetics), Joanna Crawford(The University of Queensland), John W. Nelson(Bayer (Canada)), Mats Börjeson, Gunilla Malm(Karolinska University Hospital), Arne Brun(Lund University), Marie-Louise Bondeson(Uppsala University)
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