Associated Papers
Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) Syndromes.
Ramsey K et al.
Genes, 2025
Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
McRae HM et al.
Plos Genetics, 2024
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
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
Ahmed R et al.
Human Molecular Genetics, 2021
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