Associated Papers
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain V et al.
European Journal of Human Genetics : Ejhg, 2023
Loss of PHF6 leads to aberrant development of human neuron-like cells.
Fliedner A et al.
Scientific Reports, 2020
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.
Ernst A et al.
Molecular Syndromology, 2015
PHF6 Degrees of Separation: The Multifaceted Roles of a Chromatin Adaptor Protein.
Todd MA et al.
Genes, 2015
Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.
Liu Z et al.
The Journal of Biological Chemistry, 2014
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Zweier C et al.
Journal of Medical Genetics, 2013
PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.
Berland S et al.
Molecular Syndromology, 2011
Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.
Mangelsdorf M et al.
Journal of Child Neurology, 2009
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