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
Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6.
Gerber CB et al.
Clinical Genetics, 2022
Grandparental genotyping enhances exome variant interpretation.
Daum H et al.
American Journal of Medical Genetics. Part A, 2020
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
PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex.
Todd MA et al.
Journal of Proteome Research, 2012
Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia.
Wang Q et al.
Haematologica, 2011
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