1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

Karen M. Lower, Göran Solders, Marie Louise Bondeson, John Nelson, Arne Brun, Joanna Crawford, Gunilla Malm, Mats Börjeson, Gillian Turner, Michael Partington, Jozef Gécz

Research output: Contribution to journalLetterpeer-review

25 Citations (Scopus)
Original languageEnglish
Pages (from-to)787-789
Number of pages3
JournalEuropean Journal of Human Genetics
Issue number10
Publication statusPublished or Issued - 1 Oct 2004
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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