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

A. Baumstark, K. M. Lower, A. Sinkus, I. Andriuskeviciute, L. Jurkeniene, J. Gécz, W. Just

Research output: Contribution to journalArticle

20 Citations (Scopus)
LanguageEnglish
JournalJournal of Medical Genetics
Volume40
Issue number4
Publication statusPublished - 1 Jan 2003
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Baumstark, A., Lower, K. M., Sinkus, A., Andriuskeviciute, I., Jurkeniene, L., Gécz, J., & Just, W. (2003). Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome. Journal of Medical Genetics, 40(4).
Baumstark, A. ; Lower, K. M. ; Sinkus, A. ; Andriuskeviciute, I. ; Jurkeniene, L. ; Gécz, J. ; Just, W. / Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome. In: Journal of Medical Genetics. 2003 ; Vol. 40, No. 4.
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Baumstark, A, Lower, KM, Sinkus, A, Andriuskeviciute, I, Jurkeniene, L, Gécz, J & Just, W 2003, 'Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome.', Journal of Medical Genetics, vol. 40, no. 4.

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome. / Baumstark, A.; Lower, K. M.; Sinkus, A.; Andriuskeviciute, I.; Jurkeniene, L.; Gécz, J.; Just, W.

In: Journal of Medical Genetics, Vol. 40, No. 4, 01.01.2003.

Research output: Contribution to journalArticle

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T1 - Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome.

AU - Baumstark, A.

AU - Lower, K. M.

AU - Sinkus, A.

AU - Andriuskeviciute, I.

AU - Jurkeniene, L.

AU - Gécz, J.

AU - Just, W.

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Baumstark A, Lower KM, Sinkus A, Andriuskeviciute I, Jurkeniene L, Gécz J et al. Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome. Journal of Medical Genetics. 2003 Jan 1;40(4).