A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

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

*Corresponding author for this work
20 Citations (Scopus)

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Medicine & Life Sciences