A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations inPHF6in seven females with a distinct phenotype-Reference-Cited by-同舟云学术

A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations inPHF6in seven females with a distinct phenotype

Published:2013-10-03 Issue:12 Volume:50 Page:838-847
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Zweier Christiane,Kraus Cornelia,Brueton Louise,Cole Trevor,Degenhardt Franziska,Engels Hartmut,Gillessen-Kaesbach Gabriele,Graul-Neumann Luitgard,Horn Denise,Hoyer Juliane,Just Walter,Rauch Anita,Reis André,Wollnik Bernd,Zeschnigk Michael,Lüdecke Hermann-Josef,Wieczorek Dagmar

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference24 articles.

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2. The clinical picture of the Borjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations;Turner;Clin Genet,2004

3. Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome;Lower;Nat Genet,2002

4. Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome;Baumstark;J Med Genet,2003

5. Further clinical delineation of the Borjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations;Carter;Am J Med Genet A,2009

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